NM_004004.6(GJB2):c.605G>T (p.Cys202Phe) AND Autosomal dominant nonsyndromic hearing loss 3A

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 1, 2000
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:: RCV000018544.34

Allele description [Variation Report for NM_004004.6(GJB2):c.605G>T (p.Cys202Phe)]

NM_004004.6(GJB2):c.605G>T (p.Cys202Phe)

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.605G>T (p.Cys202Phe)

HGVS:

NC_000013.11:g.20188977C>A
NG_008358.1:g.8999G>T
NM_004004.6:c.605G>TMANE SELECT
NP_003995.2:p.Cys202Phe
LRG_1350t1:c.605G>T
LRG_1350:g.8999G>T
LRG_1350p1:p.Cys202Phe
NC_000013.10:g.20763116C>A
NM_004004.5:c.605G>T
P29033:p.Cys202Phe

Protein change:

C202F; CYS202PHE

Links:

UniProtKB: P29033#VAR_015944; OMIM: 121011.0018; dbSNP: rs104894406

NCBI 1000 Genomes Browser:

rs104894406

Molecular consequence:

NM_004004.6:c.605G>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038826	OMIM	no assertion criteria provided	Pathogenic (May 1, 2000)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000574691	GeneReviews	no classification provided	not provided	germline	literature only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038826

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2000)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000574691

GeneReviews

no classification provided

not provided

germline

literature only

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.

Morlé L, Bozon M, Alloisio N, Latour P, Vandenberghe A, Plauchu H, Collet L, Edery P, Godet J, Lina-Granade G.

J Med Genet. 2000 May;37(5):368-70.

PubMed [citation]

PMID:: 10807696
PMCID:: PMC1734593

Details of each submission

From OMIM, SCV000038826.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In all affected members of a large French family with late childhood onset of autosomal dominant isolated hearing loss (DFNA3A; 601544), Morle et al. (2000) identified a heterozygous G-to-T transversion at nucleotide 605 of the GJB2 gene, resulting in the substitution of a cysteine residue by a phenylalanine residue at codon 202 in the fourth transmembrane domain of the CX26 protein. The hearing loss was detected between 10 and 20 years of age. There was significant intrafamilial variability for the severity of the hearing loss, which was restricted to high frequencies during the first decade and progressed to middle frequencies between 10 and 50 years of age.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneReviews, SCV000574691.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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