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NM_022455.5(NSD1):c.1288C>T (p.Gln430Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 11, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000296990.1

Allele description [Variation Report for NM_022455.5(NSD1):c.1288C>T (p.Gln430Ter)]

NM_022455.5(NSD1):c.1288C>T (p.Gln430Ter)

Gene:
NSD1:nuclear receptor binding SET domain protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_022455.5(NSD1):c.1288C>T (p.Gln430Ter)
HGVS:
  • NC_000005.10:g.177209687C>T
  • NG_009821.1:g.81609C>T
  • NM_001365684.2:c.415C>T
  • NM_001409301.1:c.1288C>T
  • NM_001409302.1:c.1288C>T
  • NM_001409303.1:c.1288C>T
  • NM_001409304.1:c.868C>T
  • NM_001409305.1:c.535C>T
  • NM_001409306.1:c.415C>T
  • NM_001409307.1:c.415C>T
  • NM_001409308.1:c.415C>T
  • NM_001409309.1:c.415C>T
  • NM_022455.5:c.1288C>TMANE SELECT
  • NM_172349.5:c.415C>T
  • NP_001352613.1:p.Gln161Ter
  • NP_001352613.2:p.Gln139Ter
  • NP_001396230.1:p.Gln430Ter
  • NP_001396231.1:p.Gln430Ter
  • NP_001396232.1:p.Gln430Ter
  • NP_001396233.1:p.Gln290Ter
  • NP_001396234.1:p.Gln179Ter
  • NP_001396235.1:p.Gln139Ter
  • NP_001396236.1:p.Gln139Ter
  • NP_001396237.1:p.Gln139Ter
  • NP_001396238.1:p.Gln139Ter
  • NP_071900.2:p.Gln430Ter
  • NP_071900.2:p.Gln430Ter
  • NP_758859.1:p.Gln161Ter
  • NP_758859.2:p.Gln139Ter
  • LRG_512t1:c.1288C>T
  • LRG_512:g.81609C>T
  • LRG_512p1:p.Gln430Ter
  • NC_000005.9:g.176636688C>T
  • NM_001365684.1:c.481C>T
  • NM_022455.4:c.1288C>T
  • NM_172349.3:c.481C>T
Protein change:
Q139*
Links:
dbSNP: rs367809750
NCBI 1000 Genomes Browser:
rs367809750
Molecular consequence:
  • NM_001365684.2:c.415C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001409301.1:c.1288C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001409302.1:c.1288C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001409303.1:c.1288C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001409304.1:c.868C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001409305.1:c.535C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001409306.1:c.415C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001409307.1:c.415C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001409308.1:c.415C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001409309.1:c.415C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_022455.5:c.1288C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_172349.5:c.415C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000330892GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Oct 11, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000330892.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Q430X pathogenic variant in the NSD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q430X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Q430X as a pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023