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NM_004004.6(GJB2):c.101T>G (p.Met34Arg) AND Rare genetic deafness

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 19, 2009
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:
RCV000037811.5

Allele description [Variation Report for NM_004004.6(GJB2):c.101T>G (p.Met34Arg)]

NM_004004.6(GJB2):c.101T>G (p.Met34Arg)

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.101T>G (p.Met34Arg)
HGVS:
  • NC_000013.11:g.20189481A>C
  • NG_008358.1:g.8495T>G
  • NM_004004.6:c.101T>GMANE SELECT
  • NP_003995.2:p.Met34Arg
  • LRG_1350t1:c.101T>G
  • LRG_1350:g.8495T>G
  • LRG_1350p1:p.Met34Arg
  • NC_000013.10:g.20763620A>C
  • NM_004004.5:c.101T>G
  • c.101T>G
Protein change:
M34R
Links:
dbSNP: rs35887622
NCBI 1000 Genomes Browser:
rs35887622
Molecular consequence:
  • NM_004004.6:c.101T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000061473Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
no assertion criteria provided
Likely pathogenic
(Feb 19, 2009) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, et al.

Genet Med. 2007 Jul;9(7):413-26.

PubMed [citation]
PMID:
17666888

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061473.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Feb 20, 2024