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NM_004004.6(GJB2):c.241C>G (p.Leu81Val) AND Autosomal dominant nonsyndromic hearing loss 3A

Clinical significance:Likely benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000340839.3

Allele description [Variation Report for NM_004004.6(GJB2):c.241C>G (p.Leu81Val)]

NM_004004.6(GJB2):c.241C>G (p.Leu81Val)

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.241C>G (p.Leu81Val)
HGVS:
  • NC_000013.11:g.20189341G>C
  • NG_008358.1:g.8635C>G
  • NM_004004.6:c.241C>GMANE SELECT
  • NP_003995.2:p.Leu81Val
  • LRG_1350t1:c.241C>G
  • LRG_1350:g.8635C>G
  • LRG_1350p1:p.Leu81Val
  • NC_000013.10:g.20763480G>C
  • NM_004004.5:c.241C>G
Protein change:
L81V
Links:
dbSNP: rs145216882
NCBI 1000 Genomes Browser:
rs145216882
Molecular consequence:
  • NM_004004.6:c.241C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 3A
Synonyms:
Deafness, autosomal dominant 3a
Identifiers:
MONDO: MONDO:0011103; MedGen: C2675750; Orphanet: 90635; OMIM: 601544

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000383029Illumina Laboratory Services,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.

Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC.

Ear Hear. 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad.

PubMed [citation]
PMID:
19125024

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, et al.

Genet Med. 2007 Jul;9(7):413-26.

PubMed [citation]
PMID:
17666888

Details of each submission

From Illumina Laboratory Services,Illumina, SCV000383029.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Apr 23, 2022

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