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NM_004004.6(GJB2):c.487A>C (p.Met163Leu) AND Autosomal dominant nonsyndromic hearing loss 3A

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000487480.10

Allele description [Variation Report for NM_004004.6(GJB2):c.487A>C (p.Met163Leu)]

NM_004004.6(GJB2):c.487A>C (p.Met163Leu)

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.487A>C (p.Met163Leu)
HGVS:
  • NC_000013.11:g.20189095T>G
  • NG_008358.1:g.8881A>C
  • NM_004004.6:c.487A>CMANE SELECT
  • NP_003995.2:p.Met163Leu
  • NP_003995.2:p.Met163Leu
  • LRG_1350t1:c.487A>C
  • LRG_1350:g.8881A>C
  • LRG_1350p1:p.Met163Leu
  • NC_000013.10:g.20763234T>G
  • NM_004004.5:c.487A>C
Protein change:
M163L
Links:
dbSNP: rs80338949
NCBI 1000 Genomes Browser:
rs80338949
Molecular consequence:
  • NM_004004.6:c.487A>C - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000574688GeneReviews
no classification provided
not providedgermlineliterature only

Help

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000574688.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024