NM_005266.6(GJA5):c.-175G>A AND Familial atrial fibrillation

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000316019.2

Allele description [Variation Report for NM_005266.6(GJA5):c.-175G>A]

NM_005266.6(GJA5):c.-175G>A

Gene:
GJA5:gap junction protein alpha 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.2
Genomic location:
Preferred name:
NM_005266.6(GJA5):c.-175G>A
HGVS:
  • NC_000001.11:g.147773393C>T
  • NG_009369.2:g.4982G>A
  • NC_000001.10:g.147245497C>T
Links:
dbSNP: rs35594137
NCBI 1000 Genomes Browser:
rs35594137

Condition(s)

Name:
Familial atrial fibrillation
Identifiers:
MONDO: MONDO:0018054; MedGen: C3468561; Orphanet: 334; OMIM: PS608583

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
SCV000482958Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.

Groenewegen WA, Firouzi M, Bezzina CR, Vliex S, van Langen IM, Sandkuijl L, Smits JP, Hulsbeek M, Rook MB, Jongsma HJ, Wilde AA.

Circ Res. 2003 Jan 10;92(1):14-22.

PubMed [citation]
PMID:
12522116

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000482958.2

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

Last Updated: Sep 29, 2021

Support Center