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NM_004004.6(GJB2):c.167del (p.Leu56fs) AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 8, 2011
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:
RCV000844699.12

Allele description [Variation Report for NM_004004.6(GJB2):c.167del (p.Leu56fs)]

NM_004004.6(GJB2):c.167del (p.Leu56fs)

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.6(GJB2):c.167del (p.Leu56fs)
Other names:
NM_004004.5(GJB2):c.167delT(p.Leu56Argfs); NM_004004.5(GJB2):c.167delT
HGVS:
  • NC_000013.11:g.20189415_20189415delA
  • NC_000013.11:g.20189415del
  • NG_008358.1:g.8561del
  • NM_004004.6:c.167delMANE SELECT
  • NP_003995.2:p.Leu56fs
  • LRG_1350t1:c.167del
  • LRG_1350:g.8561del
  • LRG_1350p1:p.Leu56fs
  • NC_000013.10:g.20763554del
  • NC_000013.10:g.20763554delA
  • NC_000013.11:g.20189415_20189415delA
  • NC_000013.11:g.20189415delA
  • NM_004004.5:c.167delT
  • NM_004004.6:c.167delTMANE SELECT
  • c.167delT
  • c.167delT (p.Leu56Argfs*26)
  • p.Leu56Argfs*26
  • p.Leu56ArgfsX26
  • p.Leu56fs
Protein change:
L56fs
Links:
OMIM: 121011.0010; dbSNP: rs80338942
NCBI 1000 Genomes Browser:
rs80338942
Molecular consequence:
  • NM_004004.6:c.167del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
32

Condition(s)

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

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000061479Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Dec 8, 2011) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided3932not providednot providednot providedclinical testing

Citations

PubMed

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.

Lerer I, Sagi M, Malamud E, Levi H, Raas-Rothschild A, Abeliovich D.

Am J Med Genet. 2000 Nov 6;95(1):53-6.

PubMed [citation]
PMID:
11074495

Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews.

Dong J, Katz DR, Eng CM, Kornreich R, Desnick RJ.

Mol Genet Metab. 2001 Jun;73(2):160-3.

PubMed [citation]
PMID:
11386851
See all PubMed Citations (8)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061479.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided39not providednot providedclinical testing PubMed (8)

Description

The c.167delT variant in GJB2 is known to be pathogenic with many supporting pub lications. PVS1, PM3_VeryStrong.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided39not provided32not provided

Last Updated: Nov 3, 2024