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NM_004004.6(GJB2):c.31_68del (p.Gly11fs) AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 17, 2012
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:
RCV000037837.6

Allele description [Variation Report for NM_004004.6(GJB2):c.31_68del (p.Gly11fs)]

NM_004004.6(GJB2):c.31_68del (p.Gly11fs)

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.31_68del (p.Gly11fs)
HGVS:
  • NC_000013.11:g.20189514_20189551del
  • NG_008358.1:g.8425_8462del
  • NM_004004.6:c.31_68delMANE SELECT
  • NP_003995.2:p.Gly11fs
  • LRG_1350t1:c.31_68del
  • LRG_1350:g.8425_8462del
  • LRG_1350p1:p.Gly11fs
  • NC_000013.10:g.20763653_20763690del
  • NM_004004.5:c.31_68del38
  • c.31_68del
  • p.Gly11fs
Protein change:
G11fs
Links:
dbSNP: rs397516873
NCBI 1000 Genomes Browser:
rs397516873
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
SCV000061499Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Apr 17, 2012) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dodé C, Marlin S, Boulila-ElGaïed A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, et al.

Hum Mol Genet. 1997 Nov;6(12):2173-7.

PubMed [citation]
PMID:
9336442

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061499.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The Gly11fs variant in GJB2 has been reported in one individual with hearing los s (Denoyelle 1997). This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 11 and lead to a premature termination codon 24 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Oct 26, 2024