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NM_181703.4(GJA5):c.479G>T (p.Arg160Leu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 29, 2019
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:
RCV001047602.8

Allele description [Variation Report for NM_181703.4(GJA5):c.479G>T (p.Arg160Leu)]

NM_181703.4(GJA5):c.479G>T (p.Arg160Leu)

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.479G>T (p.Arg160Leu)
HGVS:
  • NC_000001.11:g.147758760C>A
  • NG_009369.2:g.19615G>T
  • NG_076440.1:g.480C>A
  • NM_005266.7:c.479G>T
  • NM_181703.4:c.479G>TMANE SELECT
  • NP_005257.2:p.Arg160Leu
  • NP_005257.2:p.Arg160Leu
  • NP_859054.1:p.Arg160Leu
  • NC_000001.10:g.147230868C>A
  • NM_005266.6:c.479G>T
Protein change:
R160L
Links:
dbSNP: rs782538185
NCBI 1000 Genomes Browser:
rs782538185
Molecular consequence:
  • NM_005266.7:c.479G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181703.4:c.479G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Atrial standstill 1 (ATRST1)
Synonyms:
ATRIAL CARDIOMYOPATHY WITH HEART BLOCK; CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE; Atrial standstill, digenic (GJA5/SCN5A)
Identifiers:
MONDO: MONDO:0007171; MedGen: C4551959; Orphanet: 1344; OMIM: 108770
Name:
Atrial fibrillation, familial, 11 (ATFB11)
Identifiers:
MONDO: MONDO:0013544; MedGen: C3279693; OMIM: 614049

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001211569Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 29, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001211569.4

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with GJA5-related conditions. This variant is present in population databases (rs782538185, ExAC 0.002%). This sequence change replaces arginine with leucine at codon 160 of the GJA5 protein (p.Arg160Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine.

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

Last Updated: Sep 29, 2024