ClinVar Genomic variation as it relates to human health
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
Variation ID: 126715 Accession: VCV000126715.38
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 16p12.2 16: 23614089 (GRCh38) [ NCBI UCSC ] 16: 23625410 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2013 Feb 20, 2024 Jan 28, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_024675.4:c.3116del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_078951.2:p.Asn1039fs frameshift NM_024675.3:c.3116delA NC_000016.10:g.23614090del NC_000016.9:g.23625411del NG_007406.1:g.32269del LRG_308:g.32269del - Protein change
- Other names
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- Canonical SPDI
- NC_000016.10:23614088:TT:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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PALB2 | - | - |
GRCh38 GRCh37 |
5762 | 5801 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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risk factor (1) |
no assertion criteria provided
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Feb 1, 2007 | RCV000001309.3 | |
Pathogenic/Likely pathogenic (7) |
criteria provided, multiple submitters, no conflicts
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Jan 28, 2024 | RCV000114595.21 | |
Pathogenic (1) |
no assertion criteria provided
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Feb 1, 2007 | RCV000114596.4 | |
risk factor (1) |
no assertion criteria provided
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Apr 10, 2009 | RCV000114597.6 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Dec 13, 2022 | RCV000131150.15 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Feb 9, 2022 | RCV000235691.10 | |
Pathogenic (1) |
no assertion criteria provided
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- | RCV001357097.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 17, 2021 | RCV002498485.1 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 26, 2021 | RCV003149787.2 | |
Pathogenic (1) |
criteria provided, single submitter
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May 11, 2023 | RCV003235042.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Aug 27, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001470039.2
First in ClinVar: Jan 26, 2021 Last updated: Jan 01, 2022 |
Comment:
This frameshift variant causes the premature termination of PALB2 protein synthesis. In the published literature, it has been reported in individuals affected with breast cancer … (more)
This frameshift variant causes the premature termination of PALB2 protein synthesis. In the published literature, it has been reported in individuals affected with breast cancer (PMID: 17200668 (2007), 25099575 (2014), 25452441 (2015), 26283626 (2015)), pancreatic cancer (PMID: 19264984 (2009), 20412113 (2010)), Fanconi anemia (PMID: 17200671 (2007)), and other cancers (PMID: 29909963 (2018)). Therefore, the variant is classified as pathogenic. (less)
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Pathogenic
(Oct 13, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000186091.8
First in ClinVar: Aug 06, 2014 Last updated: Nov 29, 2022 |
Comment:
The c.3116delA pathogenic mutation, located in coding exon 11 of the PALB2 gene, results from a deletion of one nucleotide at nucleotide position 3116, causing … (more)
The c.3116delA pathogenic mutation, located in coding exon 11 of the PALB2 gene, results from a deletion of one nucleotide at nucleotide position 3116, causing a translational frameshift with a predicted alternate stop codon (p.N1039Ifs*2). This mutation has been reported in individuals affected with familial breast cancer and familial pancreatic cancer (Rahman N et al. Nat. Genet. 2007 Feb;39(2):165-7; Jones S et al. Science 2009 Apr 10;324(5924):217; Slater EP et al. Clin. Genet. 2010 Nov;78(5): 490-4; Thompson ER et al. Breast Cancer Res. 2015 Aug;17:111; Couch FJ et al. J Clin Oncol, 2015 Feb;33:304-11; Woodward ER et al. Genet Med, 2021 Oct;23:1969-1976; Kondrashova O et al. Cancers (Basel), 2021 04;13; Lerner-Ellis J et al. J Cancer Res Clin Oncol, 2021 Mar;147:871-879). It has also been identified in conjunction with another PALB2 mutation in an individual affected with Fanconi anemia type N (Reid S et al. Nat. Genet. 2007 Feb;39(2):162-4). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
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Pathogenic
(Aug 17, 2021)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002811104.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Feb 09, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000293156.12
First in ClinVar: Jul 24, 2016 Last updated: Mar 04, 2023 |
Comment:
Observed in individuals with PALB2-related cancers (Rahman 2007, Jones 2009, Slater 2010, Antoniou 2014, Thompson 2015); Frameshift variant predicted to result in protein truncation or … (more)
Observed in individuals with PALB2-related cancers (Rahman 2007, Jones 2009, Slater 2010, Antoniou 2014, Thompson 2015); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 18302019, 20858716, 17200668, 19264984, 20412113, 25099575, 25452441, 26283626, 23935381, 21618343, 21165770, 19763819, 21932393, 23935836, 27595995, 26845104, 28454591, 26786923, 28779002, 29909963, 34113003, 32853339, 32885271, 32581362, 32832836, 31447099, 17200671) (less)
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Pathogenic
(Nov 26, 2021)
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criteria provided, single submitter
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV003838770.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
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Pathogenic
(May 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV003934023.1
First in ClinVar: Jun 24, 2023 Last updated: Jun 24, 2023 |
Comment:
Variant summary: PALB2 c.3116delA (p.Asn1039IlefsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: PALB2 c.3116delA (p.Asn1039IlefsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.2e-05 in 249950 control chromosomes. c.3116delA has been reported in the literature as a biallelic genotype in at least one individual affected with Fanconi Anemia and childhood cancer and in the heterozygous state in multiple individuals affected with breast cancer (e.g. Reid_2007, Antoniou_2014). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 25099575, 17200671). Fifteen submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as pathogenic (n=14)/likely pathogenic(n=1). Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Aug 05, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004202144.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Jan 28, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000260801.11
First in ClinVar: Jan 31, 2016 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Asn1039Ilefs*2) in the PALB2 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Asn1039Ilefs*2) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 17200671, 17200672, 24136930, 25099575). This variant is present in population databases (rs180177133, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia, breast cancer, pancreatic cancer, and stomach cancer (PMID: 17200668, 17200671, 19264984, 20412113, 25452441, 26845104). ClinVar contains an entry for this variant (Variation ID: 126715). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Nov 20, 2015)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV000266106.1
First in ClinVar: Mar 20, 2016 Last updated: Mar 20, 2016 |
Number of individuals with the variant: 1
Clinical Features:
stomach cancer (present)
Age: 30-39 years
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Likely pathogenic
(Jun 01, 2015)
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criteria provided, single submitter
Method: case-control
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Familial cancer of breast
Cases recruited through familial
(more...)
Affected status: yes, no
Allele origin:
germline
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Cancer Genetics Laboratory, Peter MacCallum Cancer Centre
Accession: SCV000267972.1
First in ClinVar: May 11, 2016 Last updated: May 11, 2016 |
Observation 1:
Number of individuals with the variant: 1
Sex: female
Geographic origin: Australia
Observation 2:
Number of individuals with the variant: 1
Sex: female
Geographic origin: Australia
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Pathogenic
(Jan 26, 2018)
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criteria provided, single submitter
Method: research
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Hereditary cancer-predisposing syndrome
Affected status: yes
Allele origin:
germline
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Academic Department of Medical Genetics, University of Cambridge
Accession: SCV000992219.1
First in ClinVar: Sep 09, 2019 Last updated: Sep 09, 2019 |
Comment:
Application of AMCG guidelines 2015. Used other ClinVar submission evidence where relevant. Loss of heterozygosity in tumours or immunohistochemistry abnormalities considered functional evidence of pathogenicity.
Clinical Features:
Breast carcinoma (present) , Angiosarcoma (present) , Neoplasia of the nasopharynx (present)
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Pathogenic
(Jan 22, 2020)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: no
Allele origin:
germline
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Division of Medical Genetics, University of Washington
Study: CSER_CHARM
Accession: SCV001434292.1 First in ClinVar: Oct 03, 2020 Last updated: Oct 03, 2020 |
Comment:
This variant leads to a translational frameshift and the introduction of a premature termination codon at position 2 of the new reading frame. The variant … (more)
This variant leads to a translational frameshift and the introduction of a premature termination codon at position 2 of the new reading frame. The variant transcript is predicted to be unstable and degraded by nonsense-mediated decay. Loss of expression of one allele of PALB2 is a well-established mechanism of disease for increased breast cancer risk (Rahman 2007, Janatova 2013, Antoniou 2014). This variant has an allele frequency of 0.00001 in the Broad Institute gnomAD Browser (https://gnomad.broadinstitute.org/). This variant has been reported in the literature in individuals with Fanconi anemia, as well as individuals with breast cancer and pancreatic cancer (Reid 2007, Rahman 2007, Jones 2009, Slater 2010, Couch 2015, Shirts 2016). Thus, this variant is interpreted as pathogenic. PM2; PVS1 (less)
Indication for testing: Family history of breast cancer
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Pathogenic
(Jan 30, 2022)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002530755.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Pathogenic
(Apr 27, 2020)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Genetics and Molecular Pathology, SA Pathology
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002556654.2
First in ClinVar: Aug 04, 2022 Last updated: Dec 17, 2022 |
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Pathogenic
(Jun 21, 2016)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000488804.2
First in ClinVar: May 11, 2016 Last updated: Dec 24, 2022 |
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Pathogenic
(Mar 31, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV004019610.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
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Pathogenic
(Dec 13, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000690900.4
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant changes 1 nucleotide in exon 11 of the PALB2 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 11 of the PALB2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. To our knowledge, functional studies have not been reported for this variant. This variant has been detected in at least 12 individuals affected with breast cancer (PMID: 17200668, 25452441, 26283626, 33471991, 34113003; Leiden Open Variation Database DB-ID PALB2_000014), and two individuals affected with pancreatic, prostate and stomach cancer (PMID: 19264984, 26845104), and in at least 4 unaffected individuals (PMID: 26283626, 33471991; Leiden Open Variation Database DB-ID PALB2_000014). This variant also has been reported in a compound heterozygous carrier with a second PALB2 truncation variation who is affected with Fanconi anemia (PMID: 17200671). This variant has been identified in 3/249950 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of PALB2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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risk factor
(Feb 01, 2007)
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no assertion criteria provided
Method: literature only
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BREAST CANCER, SUSCEPTIBILITY TO
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000021459.1
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
Comment on evidence:
In a North American family with Fanconi anemia, complementation group N (FANCN; 610832), Reid et al. (2007) found a 1-bp deletion, 3116delA (N1039fs), in exon … (more)
In a North American family with Fanconi anemia, complementation group N (FANCN; 610832), Reid et al. (2007) found a 1-bp deletion, 3116delA (N1039fs), in exon 11 of the PALB2 gene in compound heterozygosity with a premature termination mutation (610355.0003). In 3 individuals with breast cancer (114480) from separate unrelated families with familial breast cancer, Rahman et al. (2007) found a frameshift mutation in the PALB2 gene: 3116delA, asn1039fs. (less)
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Pathogenic
(Feb 01, 2007)
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no assertion criteria provided
Method: literature only
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FANCONI ANEMIA, COMPLEMENTATION GROUP N
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000021458.1
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
Comment on evidence:
In a North American family with Fanconi anemia, complementation group N (FANCN; 610832), Reid et al. (2007) found a 1-bp deletion, 3116delA (N1039fs), in exon … (more)
In a North American family with Fanconi anemia, complementation group N (FANCN; 610832), Reid et al. (2007) found a 1-bp deletion, 3116delA (N1039fs), in exon 11 of the PALB2 gene in compound heterozygosity with a premature termination mutation (610355.0003). In 3 individuals with breast cancer (114480) from separate unrelated families with familial breast cancer, Rahman et al. (2007) found a frameshift mutation in the PALB2 gene: 3116delA, asn1039fs. (less)
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risk factor
(Apr 10, 2009)
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no assertion criteria provided
Method: literature only
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PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000021463.2
First in ClinVar: Apr 04, 2013 Last updated: Apr 22, 2019 |
Comment on evidence:
In a patient with familial pancreatic cancer (PNCA3; 613348), Jones et al. (2009) identified a heterozygous germline deletion of adenine at nucleotide 3116 in exon … (more)
In a patient with familial pancreatic cancer (PNCA3; 613348), Jones et al. (2009) identified a heterozygous germline deletion of adenine at nucleotide 3116 in exon 11 of the PALB2 gene. (less)
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Pathogenic
(May 13, 2019)
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no assertion criteria provided
Method: curation
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not provided
Affected status: yes
Allele origin:
germline
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Leiden Open Variation Database
Accession: SCV001193357.1
First in ClinVar: Apr 06, 2020 Last updated: Apr 06, 2020 |
Comment:
Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, LOVD-team, but with Curator vacancy, Marc Tischkowitz.
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001552448.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The PALB2 p.Asn1039IlefsX2 variant was identified in 16 of 15604 proband chromosomes (frequency: 0.001) from individuals or families affected with Fanconi anemia, breast cancer, pancreatic … (more)
The PALB2 p.Asn1039IlefsX2 variant was identified in 16 of 15604 proband chromosomes (frequency: 0.001) from individuals or families affected with Fanconi anemia, breast cancer, pancreatic cancer, and stomach cancer and was present in 1 of 3996 control chromosomes (frequency: 0.00025) from healthy individuals (Thompson_2015, Slater_2010, Reid_2007, Rahman_2007, Jones_2009, Zheng_2012, Southey_2013, Couch_2015, Shirts_2016, Antoniou_2014). The variant was also identified in the following databases: dbSNP (ID: rs180177133) as “With Pathogenic allele”, ClinVar and Clinvitae (13x as pathogenic by Ambry Genetics, Invitae, GeneDx, Color Geneomics, Counsyl, PALB2 database, OMIM and as likely pathogenic by Peter MacCallum Cancer Center) and Zhejiang Colon Cancer Database. The variant was not identified in the Cosmic, MutDB, or LOVD 3.0 databases. The variant was identified in control databases in 3 of 244820 chromosomes at a frequency of 0.000012 (Genome Aggregation Database Feb 27, 2017). It was observed in the European (Non-Finnish) population in 3 of 110928 chromosomes (freq: 0.000027), but not in other populations. Protein blot analysis of lymphoblastoid cells from individuals with biallelic PALB2 mutations has demonstrated that the mutation results in a null allele confirming its pathogenicity; this study has shown that biallelic pathogenic mutations in PALB2 in affected families cause a new subtype of Fanconi anemia and cancer in early childhood (Reid_2007). The c.3116delA variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1039 and leads to a premature stop codon 2 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the PALB2 gene are an established mechanism of disease in PALB2 related cancer and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer. | Woodward ER | Genetics in medicine : official journal of the American College of Medical Genetics | 2021 | PMID: 34113003 |
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development. | Kondrashova O | Cancers | 2021 | PMID: 33917078 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario. | Lerner-Ellis J | Journal of cancer research and clinical oncology | 2021 | PMID: 32885271 |
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. | Whitworth J | American journal of human genetics | 2018 | PMID: 29909963 |
Improving performance of multigene panels for genomic analysis of cancer predisposition. | Shirts BH | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26845104 |
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. | Thompson ER | Breast cancer research : BCR | 2015 | PMID: 26283626 |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25741868 |
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. | Couch FJ | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2015 | PMID: 25452441 |
Breast-cancer risk in families with mutations in PALB2. | Antoniou AC | The New England journal of medicine | 2014 | PMID: 25099575 |
The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer. | Janatova M | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2013 | PMID: 24136930 |
PALB2 mutations in European familial pancreatic cancer families. | Slater EP | Clinical genetics | 2010 | PMID: 20412113 |
Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. | Jones S | Science (New York, N.Y.) | 2009 | PMID: 19264984 |
Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. | García MJ | Breast cancer research and treatment | 2009 | PMID: 18302019 |
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. | Xia B | Nature genetics | 2007 | PMID: 17200672 |
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. | Reid S | Nature genetics | 2007 | PMID: 17200671 |
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. | Rahman N | Nature genetics | 2007 | PMID: 17200668 |
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Text-mined citations for rs180177133 ...
HelpRecord last updated Feb 28, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.