NM_181703.4(GJA5):c.253G>A (p.Val85Ile) AND Atrial fibrillation, familial, 11

Clinical significance:Pathogenic (Last evaluated: Oct 1, 2010)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000022513.27

Allele description [Variation Report for NM_181703.4(GJA5):c.253G>A (p.Val85Ile)]

NM_181703.4(GJA5):c.253G>A (p.Val85Ile)

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.253G>A (p.Val85Ile)
HGVS:
  • NC_000001.11:g.147758986C>T
  • NG_009369.2:g.19389G>A
  • NM_005266.7:c.253G>A
  • NM_181703.4:c.253G>AMANE SELECT
  • NP_005257.2:p.Val85Ile
  • NP_859054.1:p.Val85Ile
  • NC_000001.10:g.147231094C>T
  • P36382:p.Val85Ile
Protein change:
V85I; VAL85ILE
Links:
UniProtKB: P36382#VAR_066249; OMIM: 121013.0004; dbSNP: rs387906613
NCBI 1000 Genomes Browser:
rs387906613
Molecular consequence:
  • NM_005266.7:c.253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181703.4:c.253G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000043802OMIMno assertion criteria providedPathogenic
(Oct 1, 2010)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Connexin40 nonsense mutation in familial atrial fibrillation.

Yang YQ, Zhang XL, Wang XH, Tan HW, Shi HF, Jiang WF, Fang WY, Liu X.

Int J Mol Med. 2010 Oct;26(4):605-10.

PubMed [citation]
PMID:
20818502

Details of each submission

From OMIM, SCV000043802.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a 3-generation Chinese family segregating autosomal dominant atrial fibrillation (ATFB11; 614049), Yang et al. (2010) identified heterozygosity for a 253G-A transition in the GJA5 gene, resulting in a val85-to-ile (V85I) substitution at a highly conserved residue within the second transmembrane domain. The mutation was not found in 4 unaffected relatives or in 200 ethnically matched controls.

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

Last Updated: Oct 24, 2021

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