NM_181703.4(GJA5):c.744C>A (p.Cys248Ter) AND Atrial fibrillation, familial, 11

Clinical significance:Uncertain significance (Last evaluated: Nov 28, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000778936.1

Allele description [Variation Report for NM_181703.4(GJA5):c.744C>A (p.Cys248Ter)]

NM_181703.4(GJA5):c.744C>A (p.Cys248Ter)

Gene:
GJA5:gap junction protein alpha 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.2
Genomic location:
Preferred name:
NM_181703.4(GJA5):c.744C>A (p.Cys248Ter)
HGVS:
  • NC_000001.11:g.147758495G>T
  • NG_009369.2:g.19880C>A
  • NM_005266.6:c.744C>A
  • NM_181703.4:c.744C>AMANE SELECT
  • NP_005257.2:p.Cys248Ter
  • NP_859054.1:p.Cys248Ter
  • NC_000001.10:g.147230603G>T
Protein change:
C248*
Links:
dbSNP: rs1557942871
NCBI 1000 Genomes Browser:
rs1557942871
Molecular consequence:
  • NM_005266.6:c.744C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181703.4:c.744C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Atrial fibrillation, familial, 11 (ATFB11)
Identifiers:
MONDO: MONDO:0013544; MedGen: C3279693; OMIM: 614049

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000915353Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Nov 28, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000915353.1

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

Description

The GJA5 c.744C>A (p.Cys248Ter) variant is a stop gained variant predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database. This variant is located in the last exon and may escape nonsense-mediated decay. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Cys248Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for familial atrial fibrillation. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Oct 7, 2021

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