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NM_004004.6(GJB2):c.476A>T (p.Asp159Val) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:
Uncertain significance (3 submissions)
Last evaluated:
Jan 18, 2018
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:
RCV000018551.31

Allele description [Variation Report for NM_004004.6(GJB2):c.476A>T (p.Asp159Val)]

NM_004004.6(GJB2):c.476A>T (p.Asp159Val)

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)
HGVS:
  • NC_000013.11:g.20189106T>A
  • NG_008358.1:g.8870A>T
  • NM_004004.6:c.476A>TMANE SELECT
  • NP_003995.2:p.Asp159Val
  • LRG_1350t1:c.476A>T
  • LRG_1350:g.8870A>T
  • LRG_1350p1:p.Asp159Val
  • NC_000013.10:g.20763245T>A
  • NM_004004.5:c.476A>T
  • P29033:p.Asp159Val
Protein change:
D159V; ASP159VAL
Links:
UniProtKB: P29033#VAR_015941; OMIM: 121011.0024; dbSNP: rs28931592
NCBI 1000 Genomes Browser:
rs28931592
Molecular consequence:
  • NM_004004.6:c.476A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A)
Synonyms:
Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009076; MedGen: C2673759; Orphanet: 90636; OMIM: 220290

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038833OMIM
no assertion criteria provided
Pathogenic
(Sep 15, 2002)
germlineliterature only

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

SCV000800655Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Uncertain significance
(Jan 18, 2018)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV002086043Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jul 13, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.

Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY.

PLoS One. 2015;10(6):e0125416. doi: 10.1371/journal.pone.0125416.

PubMed [citation]
PMID:
26061264
PMCID:
PMC4464755

Exploring the clinical and epidemiological complexity of GJB2-linked deafness.

Gualandi F, Ravani A, Berto A, Sensi A, Trabanelli C, Falciano F, Trevisi P, Mazzoli M, Tibiletti MG, Cristofari E, Burdo S, Ferlini A, Martini A, Calzolari E.

Am J Med Genet. 2002 Sep 15;112(1):38-45.

PubMed [citation]
PMID:
12239718

Details of each submission

From OMIM, SCV000038833.3

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

Description

In a study in Italy of 179 unrelated subjects with sporadic or familial hearing loss, Gualandi et al. (2002) identified a 476A-T transversion in the GJB2 gene, resulting in an asp159-to-val (D159V) substitution in a patient with sporadic nonsyndromic hearing loss (DFNB1A; 220290).

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

From Counsyl, SCV000800655.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV002086043.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024