NM_000166.6(GJB1):c.-17G>A AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jun 29, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000235476.3

Allele description [Variation Report for NM_000166.6(GJB1):c.-17G>A]

NM_000166.6(GJB1):c.-17G>A

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.-17G>A
HGVS:
  • NC_000023.11:g.71223335G>A
  • NG_008357.1:g.13124G>A
  • NM_000166.6:c.-17G>AMANE SELECT
  • NM_001097642.3:c.-16-357G>A
  • LRG_245t2:c.-17G>A
  • LRG_245:g.13124G>A
  • NC_000023.10:g.70443185G>A
  • NM_000166.5:c.-17G>A
Links:
dbSNP: rs879254047
NCBI 1000 Genomes Browser:
rs879254047
Molecular consequence:
  • NM_000166.6:c.-17G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001097642.3:c.-16-357G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000293293GeneDxcriteria provided, single submitter
Likely pathogenic
(Jun 29, 2021)
germlineclinical testing

Citation Link,

SCV001476386Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Jul 28, 2020)
unknownclinical testing

PubMed (6)
[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

A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.

Murphy SM, Polke J, Manji H, Blake J, Reiniger L, Sweeney M, Houlden H, Brandner S, Reilly MM.

J Peripher Nerv Syst. 2011 Mar;16(1):65-70. doi: 10.1111/j.1529-8027.2011.00321.x.

PubMed [citation]
PMID:
21504505

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

Tomaselli PJ, Rossor AM, Horga A, Jaunmuktane Z, Carr A, Saveri P, Piscosquito G, Pareyson D, Laura M, Blake JC, Poh R, Polke J, Houlden H, Reilly MM.

Neurology. 2017 Apr 11;88(15):1445-1453. doi: 10.1212/WNL.0000000000003819. Epub 2017 Mar 10.

PubMed [citation]
PMID:
28283593
PMCID:
PMC5386440
See all PubMed Citations (6)

Details of each submission

From GeneDx, SCV000293293.9

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

Description

No data available from control populations to assess the frequency of this variant; This variant is associated with the following publications: (PMID: 23011429, 22464564, 28768847, 26392352, 31827005, 21504505, 28283593)

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

From Athena Diagnostics Inc, SCV001476386.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

Not found in the gnomAD genomes dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Splicing predictions are inconclusive. Nucleotide conservation is uninformative. Strong co-segregation with disease, and data includes affected and unaffected individuals from multiple families.

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

Last Updated: Nov 27, 2021

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