NM_004004.6(GJB2):c.2T>C (p.Met1Thr) AND Autosomal dominant nonsyndromic hearing loss 3A

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 11, 2016
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:: RCV000410366.8

Allele description [Variation Report for NM_004004.6(GJB2):c.2T>C (p.Met1Thr)]

NM_004004.6(GJB2):c.2T>C (p.Met1Thr)

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.2T>C (p.Met1Thr)

HGVS:

NC_000013.11:g.20189580A>G
NG_008358.1:g.8396T>C
NM_004004.6:c.2T>CMANE SELECT
NP_003995.2:p.Met1Thr
LRG_1350t1:c.2T>C
LRG_1350:g.8396T>C
LRG_1350p1:p.Met1Thr
NC_000013.10:g.20763719A>G
NM_004004.5:c.2T>C
NM_004004.6(GJB2):c.2T>CMANE SELECT
p.Met1Thr

Protein change:

M1T

Links:

dbSNP: rs371086981

NCBI 1000 Genomes Browser:

rs371086981

Molecular consequence:

NM_004004.6:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_004004.6:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal dominant nonsyndromic hearing loss 3A
Synonyms:: Deafness, autosomal dominant 3a
Identifiers:: MONDO: MONDO:0011103; MedGen: C2675750; Orphanet: 90635; OMIM: 601544

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000487742	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Oct 11, 2016)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 12189493, 21094651 mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000487742

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Oct 11, 2016)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

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

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

Asymmetric configurations and N-terminal rearrangements in connexin26 gap junction channels.

Oshima A, Tani K, Toloue MM, Hiroaki Y, Smock A, Inukai S, Cone A, Nicholson BJ, Sosinsky GE, Fujiyoshi Y.

J Mol Biol. 2011 Jan 21;405(3):724-35. doi: 10.1016/j.jmb.2010.10.032. Epub 2010 Nov 20.

PubMed [citation]

PMID:: 21094651
PMCID:: PMC3026138

Details of each submission

From Counsyl, SCV000487742.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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

Last Updated: May 1, 2024

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