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NM_004004.6(GJB2):c.2T>C (p.Met1Thr) AND Autosomal recessive nonsyndromic hearing loss 1A

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:
RCV000409687.8

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 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000487741Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Oct 11, 2016) 		unknownclinical 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

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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, SCV000487741.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024