NM_004004.6(GJB2):c.499G>A (p.Val167Met) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 29, 2007
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:: RCV000037861.5

Allele description [Variation Report for NM_004004.6(GJB2):c.499G>A (p.Val167Met)]

NM_004004.6(GJB2):c.499G>A (p.Val167Met)

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.499G>A (p.Val167Met)

HGVS:

NC_000013.11:g.20189083C>T
NG_008358.1:g.8893G>A
NM_004004.6:c.499G>AMANE SELECT
NP_003995.2:p.Val167Met
LRG_1350t1:c.499G>A
LRG_1350:g.8893G>A
LRG_1350p1:p.Val167Met
NC_000013.10:g.20763222C>T
NM_004004.5:c.499G>A
P29033:p.Val167Met
c.499G>A

Protein change:

V167M

Links:

UniProtKB: P29033#VAR_023612; dbSNP: rs111033360

NCBI 1000 Genomes Browser:

rs111033360

Molecular consequence:

NM_004004.6:c.499G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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
SCV000061523	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	no assertion criteria provided	Likely benign (Jun 29, 2007)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 14722929, 17426645, 17357124

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061523

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

no assertion criteria provided

Likely benign
(Jun 29, 2007)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants.

Gasmelseed NMA, Schmidt M, Magzoub MMA, Macharia M, Elmustafa OM, Ototo B, Winkler E, Ruge G, Horstmann RD, Meyer CG.

Hum Mutat. 2004 Feb;23(2):206-207. doi: 10.1002/humu.9216.

PubMed [citation]

PMID:: 14722929

GJB2 and GJB6 mutations in children with congenital cytomegalovirus infection.

Ross SA, Novak Z, Kumbla RA, Zhang K, Fowler KB, Boppana S.

Pediatr Res. 2007 Jun;61(6):687-91.

PubMed [citation]

PMID:: 17426645

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061523.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

#	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		1	not provided	1	not provided

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine