U.S. flag

An official website of the United States government

NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) AND not provided

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Aug 26, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000235814.6

Allele description [Variation Report for NM_000166.6(GJB1):c.239A>G (p.Gln80Arg)]

NM_000166.6(GJB1):c.239A>G (p.Gln80Arg)

Gene:
GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg)
HGVS:
  • NC_000023.11:g.71223946A>G
  • NG_008357.1:g.13735A>G
  • NM_000166.6:c.239A>GMANE SELECT
  • NM_001097642.3:c.239A>G
  • NP_000157.1:p.Gln80Arg
  • NP_001091111.1:p.Gln80Arg
  • LRG_245t2:c.239A>G
  • LRG_245:g.13735A>G
  • LRG_245p2:p.Gln80Arg
  • NC_000023.10:g.70443796A>G
  • NM_000166.5:c.239A>G
  • P08034:p.Gln80Arg
Protein change:
Q80R
Links:
UniProtKB: P08034#VAR_002055; dbSNP: rs879254097
NCBI 1000 Genomes Browser:
rs879254097
Molecular consequence:
  • NM_000166.6:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.239A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000293448GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely pathogenic
(Aug 20, 2021)
germlineclinical testing

Citation Link,

SCV000613480Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
pathogenic
(Aug 26, 2024)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

New point mutations and deletions of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy.

Ionasescu V, Searby C, Ionasescu R, Meschino W.

Neuromuscul Disord. 1995 Jul;5(4):297-9.

PubMed [citation]
PMID:
7580242

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, et al.

Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187.

PubMed [citation]
PMID:
37284795
PMCID:
PMC10545504
See all PubMed Citations (8)

Details of each submission

From GeneDx, SCV000293448.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Functional studies show that the Q80R variant is capable of forming a functional gap junction protein, and the authors conclude that further functional studies are necessary to elucidate the effect, if any, of the Q80R variant (Wang et al., 2004); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30042657, 25449862, 15006706, 9361298, 28211240, 17353473, 8737658, 10873293, 10737979, 7580242)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics, SCV000613480.2

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

Description

This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) In some published literature, this variant is referred to as c.301A>G, (p.Gln80Arg). Assessment of experimental evidence regarding the effect of this variant on protein function is inconclusive (PMID: 15006706). This variant has been identified in multiple unrelated individuals with clinical features associated with this gene. This variant occurs as the most likely explanation for disease in a significant number of internal cases, suggesting this variant is associated with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 19, 2025