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NM_004004.6(GJB2):c.583A>G (p.Met195Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 18, 2016
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:
RCV000490342.1

Allele description [Variation Report for NM_004004.6(GJB2):c.583A>G (p.Met195Val)]

NM_004004.6(GJB2):c.583A>G (p.Met195Val)

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.583A>G (p.Met195Val)
HGVS:
  • NC_000013.11:g.20188999T>C
  • NG_008358.1:g.8977A>G
  • NM_004004.6:c.583A>GMANE SELECT
  • NP_003995.2:p.Met195Val
  • LRG_1350t1:c.583A>G
  • LRG_1350:g.8977A>G
  • LRG_1350p1:p.Met195Val
  • NC_000013.10:g.20763138T>C
  • NC_000013.10:g.20763138T>C
  • NM_004004.5:c.583A>G
  • NM_004004.6(GJB2):c.583A>GMANE SELECT
Protein change:
M195V
Links:
dbSNP: rs532203068
NCBI 1000 Genomes Browser:
rs532203068
Molecular consequence:
  • NM_004004.6:c.583A>G - 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
Name:
Autosomal dominant nonsyndromic hearing loss 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
SCV000267341Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 18, 2016) 		germlinereference population

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown1not providednot providednot providednot providedreference population

Citations

PubMed

A large cohort study of GJB2 mutations in Japanese hearing loss patients.

Tsukada K, Nishio S, Usami S; Deafness Gene Study Consortium.

Clin Genet. 2010 Nov;78(5):464-70. doi: 10.1111/j.1399-0004.2010.01407.x.

PubMed [citation]
PMID:
20497192

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267341.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedreference population PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: May 25, 2025