NM_004004.6(GJB2):c.250G>A (p.Val84Met) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Jun 2, 2023
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:: RCV000018564.29

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]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038846	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000487629	Counsyl	no assertion criteria provided	Pathogenic (Jun 8, 2016)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 23668481, 18472371, 17660464, 24774219
SCV001453342	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing
SCV003935288	Integrating Genomics into Medicine, Frazer Institute, University Of Queensland	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 2, 2023)	germline	clinical testing	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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
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	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.

Matos TD, Simões-Teixeira H, Caria H, Gonçalves AC, Chora J, Correia Mdo C, Moura C, Rosa H, Monteiro L, O'Neill A, Dias Ó, Andrea M, Fialho G.

Int J Audiol. 2013 Jul;52(7):466-71. doi: 10.3109/14992027.2013.783719. Epub 2013 May 13.

PubMed [citation]

PMID:: 23668481

A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss.

Matos TD, Caria H, Simões-Teixeira H, Aasen T, Dias O, Andrea M, Kelsell DP, Fialho G.

Hear Res. 2008 Jun;240(1-2):87-92. doi: 10.1016/j.heares.2008.03.004. Epub 2008 Apr 3.

PubMed [citation]

PMID:: 18472371

See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000038846.3

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

Description

For discussion of the val84-to-met (V84M) mutation in the GJB2 gene that was found in compound heterozygous state in a patient with autosomal recessive neurosensory deafness (DFNB1A; 220290) by Matos et al. (2007), see 121011.0036.

#	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 Counsyl, SCV000487629.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

From Natera, Inc., SCV001453342.1

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

From Integrating Genomics into Medicine, Frazer Institute, University Of Queensland, SCV003935288.1

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

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

Last Updated: Nov 3, 2024

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