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NM_004004.6(GJB2):c.516G>C (p.Trp172Cys) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000721943.1

Allele description [Variation Report for NM_004004.6(GJB2):c.516G>C (p.Trp172Cys)]

NM_004004.6(GJB2):c.516G>C (p.Trp172Cys)

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.516G>C (p.Trp172Cys)
HGVS:
  • NC_000013.11:g.20189066C>G
  • NG_008358.1:g.8910G>C
  • NM_004004.5(GJB2):c.516G>C
  • NM_004004.6:c.516G>CMANE SELECT
  • NP_003995.2:p.Trp172Cys
  • LRG_1350t1:c.516G>C
  • LRG_1350:g.8910G>C
  • LRG_1350p1:p.Trp172Cys
  • NC_000013.10:g.20763205C>G
  • NM_004004.5(GJB2):c.516G>C
  • NM_004004.5:c.516G>C
Protein change:
W172C
Links:
dbSNP: rs1302739538
NCBI 1000 Genomes Browser:
rs1302739538
Molecular consequence:
  • NM_004004.6:c.516G>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
SCV000852065Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics
no assertion criteria provided
Likely pathogenicinheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Tuvinians, Altaiansinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics, SCV000852065.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Tuvinians, Altaiansnot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023