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NM_004004.6(GJB2):c.154G>C (p.Val52Leu) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 14, 2017
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:
RCV000670560.1

Allele description [Variation Report for NM_004004.6(GJB2):c.154G>C (p.Val52Leu)]

NM_004004.6(GJB2):c.154G>C (p.Val52Leu)

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.154G>C (p.Val52Leu)
HGVS:
  • NC_000013.11:g.20189428C>G
  • NG_008358.1:g.8548G>C
  • NM_004004.6:c.154G>CMANE SELECT
  • NP_003995.2:p.Val52Leu
  • LRG_1350t1:c.154G>C
  • LRG_1350:g.8548G>C
  • LRG_1350p1:p.Val52Leu
  • NC_000013.10:g.20763567C>G
  • NM_004004.5:c.154G>C
Protein change:
V52L
Links:
dbSNP: rs1555341987
NCBI 1000 Genomes Browser:
rs1555341987
Molecular consequence:
  • NM_004004.6:c.154G>C - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000795423Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Nov 14, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

The promoter mutation c.-259C>T (-3438C>T) is not a common cause of non-syndromic hearing impairment in Austria.

Koenighofer M, Lucas T, Parzefall T, Ramsebner R, Schoefer C, Frei K.

Eur Arch Otorhinolaryngol. 2015 Jan;272(1):229-32. doi: 10.1007/s00405-014-3223-z. Epub 2014 Aug 2.

PubMed [citation]
PMID:
25085637

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, et al.

Am J Hum Genet. 2005 Dec;77(6):945-57. Epub 2005 Oct 19.

PubMed [citation]
PMID:
16380907
PMCID:
PMC1285178
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000795423.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023