NM_004004.6(GJB2):c.34G>C (p.Gly12Arg) AND Autosomal dominant keratitis-ichthyosis-hearing loss syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 2002
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:: RCV000018548.31

Allele description [Variation Report for NM_004004.6(GJB2):c.34G>C (p.Gly12Arg)]

NM_004004.6(GJB2):c.34G>C (p.Gly12Arg)

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.34G>C (p.Gly12Arg)

HGVS:

NC_000013.11:g.20189548C>G
NG_008358.1:g.8428G>C
NM_004004.6:c.34G>CMANE SELECT
NP_003995.2:p.Gly12Arg
LRG_1350t1:c.34G>C
LRG_1350:g.8428G>C
LRG_1350p1:p.Gly12Arg
NC_000013.10:g.20763687C>G
P29033:p.Gly12Arg

Protein change:

G12R; GLY12ARG

Links:

UniProtKB: P29033#VAR_015453; OMIM: 121011.0021; dbSNP: rs104894408

NCBI 1000 Genomes Browser:

rs104894408

Molecular consequence:

NM_004004.6:c.34G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Synonyms:: KID SYNDROME, AUTOSOMAL DOMINANT; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Senter syndrome
Identifiers:: MONDO: MONDO:0007850; MedGen: C0265336; Orphanet: 477; OMIM: 148210

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038830	OMIM	no assertion criteria provided	Pathogenic (May 1, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038830

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2002)

germline

literature only

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

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

Citations

PubMed

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L.

Am J Hum Genet. 2002 May;70(5):1341-8. Epub 2002 Mar 22.

PubMed [citation]

PMID:: 11912510
PMCID:: PMC447609

Details of each submission

From OMIM, SCV000038830.5

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

Description

In a sporadic case of KID syndrome (KIDAD; 148210), Richard et al. (2002) identified a heterozygous G-to-C transversion in codon 12 of the GJB2 gene, replacing glycine with arginine (G12R).

#	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

Last Updated: Jan 13, 2025

ClinVar

Relating variation to medicine