U.S. flag

An official website of the United States government

NM_004004.6(GJB2):c.263C>G (p.Ala88Gly) AND Autosomal recessive nonsyndromic hearing loss 1A

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 28, 2018
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:
RCV000673680.1

Allele description [Variation Report for NM_004004.6(GJB2):c.263C>G (p.Ala88Gly)]

NM_004004.6(GJB2):c.263C>G (p.Ala88Gly)

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.263C>G (p.Ala88Gly)
HGVS:
  • NC_000013.11:g.20189319G>C
  • NG_008358.1:g.8657C>G
  • NM_004004.6:c.263C>GMANE SELECT
  • NP_003995.2:p.Ala88Gly
  • LRG_1350t1:c.263C>G
  • LRG_1350:g.8657C>G
  • LRG_1350p1:p.Ala88Gly
  • NC_000013.10:g.20763458G>C
  • NM_004004.5:c.263C>G
Protein change:
A88G
Links:
dbSNP: rs1555341945
NCBI 1000 Genomes Browser:
rs1555341945
Molecular consequence:
  • NM_004004.6:c.263C>G - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000798910Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Mar 28, 2018) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family.

Alemanno MS, Cama E, Santarelli R, Carella M, Zelante L, Toffolatti L, Palladino T, Melchionda S, Arslan E.

Int J Pediatr Otorhinolaryngol. 2009 Jan;73(1):127-31. doi: 10.1016/j.ijporl.2008.09.019. Epub 2008 Nov 5.

PubMed [citation]
PMID:
18990456

NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.

Chakchouk I, Ben Said M, Jbeli F, Benmarzoug R, Loukil S, Smeti I, Chakroun A, Gibriel AA, Ghorbel A, Hadjkacem H, Masmoudi S.

J Mol Diagn. 2015 Mar;17(2):155-61. doi: 10.1016/j.jmoldx.2014.11.003. Epub 2015 Jan 2.

PubMed [citation]
PMID:
25560255

Details of each submission

From Counsyl, SCV000798910.1

#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: Dec 24, 2023