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NM_004004.6(GJB2):c.79G>A (p.Val27Ile) AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 25, 2017
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:
RCV000576408.10

Allele description [Variation Report for NM_004004.6(GJB2):c.79G>A (p.Val27Ile)]

NM_004004.6(GJB2):c.79G>A (p.Val27Ile)

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.79G>A (p.Val27Ile)
HGVS:
  • NC_000013.11:g.20189503C>T
  • NG_008358.1:g.8473G>A
  • NM_004004.6:c.79G>AMANE SELECT
  • NP_003995.2:p.Val27Ile
  • NP_003995.2:p.Val27Ile
  • LRG_1350t1:c.79G>A
  • LRG_1350:g.8473G>A
  • LRG_1350p1:p.Val27Ile
  • NC_000013.10:g.20763642C>T
  • NM_004004.5:c.79G>A
  • P29033:p.Val27Ile
  • c.79G>A
Protein change:
V27I
Links:
UniProtKB: P29033#VAR_002137; dbSNP: rs2274084
NCBI 1000 Genomes Browser:
rs2274084
Molecular consequence:
  • NM_004004.6:c.79G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219]

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
Name:
Autosomal dominant nonsyndromic hearing loss 3A
Synonyms:
Deafness, autosomal dominant 3a
Identifiers:
MONDO: MONDO:0011103; MedGen: C2675750; Orphanet: 90635; OMIM: 601544

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000677264Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Benign
(Apr 25, 2017) 		germlineclinical testing

PubMed (20)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.

Marlin S, Garabédian EN, Roger G, Moatti L, Matha N, Lewin P, Petit C, Denoyelle F.

Arch Otolaryngol Head Neck Surg. 2001 Aug;127(8):927-33.

PubMed [citation]
PMID:
11493200

A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region.

Castro LS, Marinho AN, Rodrigues EM, Marques GC, Carvalho TA, Silva LC, dos Santos SE.

Braz J Otorhinolaryngol. 2013 Jan-Feb;79(1):95-9. English, Portuguese.

PubMed [citation]
PMID:
23503914
PMCID:
PMC9450865
See all PubMed Citations (20)

Details of each submission

From Athena Diagnostics, SCV000677264.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (20)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024