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NM_015600.4(ABHD12):c.477G>A (p.Trp159Ter) AND Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000132768.3

Allele description

NM_015600.4(ABHD12):c.477G>A (p.Trp159Ter)

Gene:
ABHD12:abhydrolase domain containing 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p11.21
Genomic location:
Preferred name:
NM_015600.4(ABHD12):c.477G>A (p.Trp159Ter)
HGVS:
  • NC_000020.11:g.25320264C>T
  • NG_028119.1:g.75719G>A
  • NM_015600.4:c.477G>A
  • NP_056415.1:p.Trp159Ter
  • NC_000020.10:g.25300900C>T
Protein change:
W159*; TRP159TER
Links:
OMIM: 613599.0006; dbSNP: rs587777603
NCBI 1000 Genomes Browser:
rs587777603
Molecular consequence:
  • NM_015600.4:c.477G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)
Synonyms:
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Identifiers:
MedGen: C2675204; Orphanet: 171848; OMIM: 612674

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000187720OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2014) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.

Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31. Erratum in: Ophthalmology. 2017 Feb;124(2):273-274.

PubMed [citation]
PMID:
24697911

Details of each submission

From OMIM, SCV000187720.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 34-year-old Dutch man with retinitis pigmentosa, posterior subcapsular cataract, bilateral hearing loss, ataxia, and peripheral sensory loss in the lower extremities (PHARC; 612674), in whom MRI showed a normal cerebellum, Nishiguchi et al. (2014) identified compound heterozygosity for a nonsense and a missense mutation in exon 5 of the ABHD12 gene: a c.447G-A transition resulting in a trp159-to-ter (W159X) substitution, and a c.557G-A transition resulting in an arg186-to-pro (R186P; 613599.0007) substitution at a highly conserved residue in the central helices. His unaffected parents and an unaffected sister were each heterozygous for 1 of the mutations, neither of which was found in 500 Dutch controls.

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

Last Updated: Jul 21, 2018