NM_004004.6(GJB2):c.250G>A (p.Val84Met) AND Rare genetic deafness

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 12, 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:: RCV000211769.4

Allele description [Variation Report for NM_004004.6(GJB2):c.250G>A (p.Val84Met)]

NM_004004.6(GJB2):c.250G>A (p.Val84Met)

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.250G>A (p.Val84Met)

HGVS:

NC_000013.11:g.20189332C>T
NG_008358.1:g.8644G>A
NM_004004.6:c.250G>AMANE SELECT
NP_003995.2:p.Val84Met
LRG_1350t1:c.250G>A
LRG_1350:g.8644G>A
LRG_1350p1:p.Val84Met
NC_000013.10:g.20763471C>T
NM_004004.5:c.250G>A
P29033:p.Val84Met
c.250G>A

Protein change:

V84M; VAL84MET

Links:

UniProtKB: P29033#VAR_060800; OMIM: 121011.0037; dbSNP: rs104894409

NCBI 1000 Genomes Browser:

rs104894409

Molecular consequence:

NM_004004.6:c.250G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Rare genetic deafness
Identifiers:: MedGen: C5680250; Orphanet: 96210

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061491	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	no assertion criteria provided	Pathogenic (Feb 12, 2007)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 12865758, 9529365, 16222667

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061491

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

no assertion criteria provided

Pathogenic
(Feb 12, 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	2	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.

Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB, Garcia Sanchez G, Liu MD XZ, Morell R, Nance WE.

Genet Med. 2003 Jul-Aug;5(4):295-303.

PubMed [citation]

PMID:: 12865758

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ.

Am J Hum Genet. 1998 Apr;62(4):792-9.

PubMed [citation]

PMID:: 9529365
PMCID:: PMC1377046

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061491.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	1	not provided

Last Updated: Nov 3, 2024

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