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NM_004004.6(GJB2):c.458T>C (p.Val153Ala) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 26, 2022
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:
RCV002302504.1

Allele description [Variation Report for NM_004004.6(GJB2):c.458T>C (p.Val153Ala)]

NM_004004.6(GJB2):c.458T>C (p.Val153Ala)

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.458T>C (p.Val153Ala)
HGVS:
  • NC_000013.11:g.20189124A>G
  • NG_008358.1:g.8852T>C
  • NM_004004.6:c.458T>CMANE SELECT
  • NP_003995.2:p.Val153Ala
  • LRG_1350t1:c.458T>C
  • LRG_1350:g.8852T>C
  • LRG_1350p1:p.Val153Ala
  • NC_000013.10:g.20763263A>G
  • NM_004004.5:c.458T>C
Protein change:
V153A
Molecular consequence:
  • NM_004004.6:c.458T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002598767Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Sep 26, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.

Dai P, Yu F, Han B, Liu X, Wang G, Li Q, Yuan Y, Liu X, Huang D, Kang D, Zhang X, Yuan H, Yao K, Hao J, He J, He Y, Wang Y, Ye Q, Yu Y, Lin H, Liu L, Deng W, et al.

J Transl Med. 2009 Apr 14;7:26. doi: 10.1186/1479-5876-7-26.

PubMed [citation]
PMID:
19366456
PMCID:
PMC2679712

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

Yuan Y, You Y, Huang D, Cui J, Wang Y, Wang Q, Yu F, Kang D, Yuan H, Han D, Dai P.

J Transl Med. 2009 Sep 10;7:79. doi: 10.1186/1479-5876-7-79.

PubMed [citation]
PMID:
19744334
PMCID:
PMC2754984
See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002598767.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Variant summary: GJB2 c.458T>C (p.Val153Ala) results in a non-conservative amino acid change located in the Connexin, N-Terminal (IPR 013092) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251112 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.458T>C has been reported in the literature in an individual affected with Non-Syndromic Hearing Loss (Yuan_2009 and Dai_2009 etc.). These reports do not provide unequivocal conclusions about association of the variant with Non-Syndromic Hearing Loss. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Nov 13, 2022