NM_004004.6(GJB2):c.1A>G (p.Met1Val) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: May 9, 2017
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:: RCV000037821.19

Allele description [Variation Report for NM_004004.6(GJB2):c.1A>G (p.Met1Val)]

NM_004004.6(GJB2):c.1A>G (p.Met1Val)

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.1A>G (p.Met1Val)

Other names:

NM_004004.6(GJB2):c.1A>G; p.Met1Val

HGVS:

NC_000013.11:g.20189581T>C
NG_008358.1:g.8395A>G
NM_004004.6:c.1A>GMANE SELECT
NP_003995.2:p.Met1Val
LRG_1350t1:c.1A>G
LRG_1350:g.8395A>G
LRG_1350p1:p.Met1Val
NC_000013.10:g.20763720T>C
NM_004004.5:c.1A>G
c.1A>G
p.Met1?

Protein change:

M1V

Links:

dbSNP: rs111033293

NCBI 1000 Genomes Browser:

rs111033293

Molecular consequence:

NM_004004.6:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_004004.6:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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minimaoside A [Supplementary Concept]
minimaoside A [Supplementary Concept]
from Centipeda minima; structure in first source<br/>Date introduced: March 17, 2010<br/>

MeSH
Pseudodidymella minima [Supplementary Concept]
Pseudodidymella minima [Supplementary Concept]
Date introduced: October 1, 2020<br/>

MeSH
Phaeoacremonium minimum [Supplementary Concept]
Phaeoacremonium minimum [Supplementary Concept]
Date introduced: October 1, 2020<br/>

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000220945	Counsyl	no assertion criteria provided	Pathogenic (Oct 12, 2016)	unknown	clinical testing	PubMed (14) [See all records that cite these PMIDs] 12189493, 23695287, 18983339, 17666888, 18941476, 16532460, 26188157, 10218527, 9482292, 23555729, 15488970, 20146813, 9710598, 12910486
SCV000599721	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Pathogenic (May 9, 2017)	germline	clinical testing	Citation Link,
SCV001455335	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000220945

Counsyl

no assertion criteria provided

Pathogenic
(Oct 12, 2016)

unknown

clinical testing

PubMed (14)
[See all records that cite these PMIDs]

SCV000599721

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

criteria provided, single submitter

(DGD Variant Analysis Guidelines)

Pathogenic
(May 9, 2017)

germline

clinical testing

Citation Link,

SCV001455335

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 16, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Citations

PubMed

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.

Thönnissen E, Rabionet R, Arbonès ML, Estivill X, Willecke K, Ott T.

Hum Genet. 2002 Aug;111(2):190-7. Epub 2002 Jun 22.

PubMed [citation]

PMID:: 12189493

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.

Hoefsloot LH, Roux AF, Bitner-Glindzicz M; contributors to EMQN DFNB1 best practice meeting..

Eur J Hum Genet. 2013 Nov;21(11):1325-9. doi: 10.1038/ejhg.2013.83. Epub 2013 May 22. No abstract available.

PubMed [citation]

PMID:: 23695287
PMCID:: PMC3798855

See all PubMed Citations (14)

Details of each submission

From Counsyl, SCV000220945.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (14)

#	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 Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000599721.2

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

From Natera, Inc., SCV001455335.2

#	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

Last Updated: Oct 13, 2024

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