NM_019616.4(F7):c.1172G>A (p.Arg391Gln) AND Myocardial infarction, decreased susceptibility to

Clinical significance:risk factor (Last evaluated: Sep 14, 2000)

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:
RCV000012861.5

Allele description [Variation Report for NM_019616.4(F7):c.1172G>A (p.Arg391Gln)]

NM_019616.4(F7):c.1172G>A (p.Arg391Gln)

Genes:
F10:coagulation factor X [Gene - OMIM - HGNC]
F7:coagulation factor VII [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q34
Genomic location:
Preferred name:
NM_019616.4(F7):c.1172G>A (p.Arg391Gln)
Other names:
F7, ARG353GLN; R353Q
HGVS:
  • NC_000013.11:g.113118845G>A
  • NG_009258.1:g.1047G>A
  • NG_009262.1:g.18055G>A
  • NM_000131.4:c.1238G>A
  • NM_001267554.1:c.986G>A
  • NM_019616.4:c.1172G>AMANE SELECT
  • NP_000122.1:p.Arg413Gln
  • NP_001254483.1:p.Arg329Gln
  • NP_062562.1:p.Arg391Gln
  • LRG_554t1:c.1238G>A
  • LRG_548:g.1047G>A
  • LRG_554:g.18055G>A
  • LRG_554p1:p.Arg413Gln
  • NC_000013.10:g.113773159G>A
  • NR_051961.2:n.1256G>A
  • P08709:p.Arg413Gln
Protein change:
R329Q; ARG353GLN
Links:
UniProtKB: P08709#VAR_006518; OMIM: 613878.0014; dbSNP: rs6046
NCBI 1000 Genomes Browser:
rs6046
Molecular consequence:
  • NM_000131.4:c.1238G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267554.1:c.986G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019616.4:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_051961.2:n.1256G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Myocardial infarction, decreased susceptibility to
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033102OMIMno assertion criteria providedrisk factor
(Sep 14, 2000)
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

Polymorphisms in the factor VII gene and the risk of myocardial infarction in patients with coronary artery disease.

Girelli D, Russo C, Ferraresi P, Olivieri O, Pinotti M, Friso S, Manzato F, Mazzucco A, Bernardi F, Corrocher R.

N Engl J Med. 2000 Sep 14;343(11):774-80.

PubMed [citation]
PMID:
10984565

Details of each submission

From OMIM, SCV000033102.3

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

Description

Girelli et al. (2000) found that individuals carrying an arg353-to-gln polymorphism (R353Q) in the F7 gene had a markedly decreased incidence of myocardial infarction (608446) despite severe, angiographically documented coronary atherosclerosis. The QQ genotype was associated with a 72% reduction of activated factor VII activity compared with the wildtype genotype. Heterozygote carriers of the Q allele had a 0.47 risk of MI compared with patients with the wildtype genotype (95% CI, 0.27-0.81). The Q allele was found to be in linkage disequilibrium with the A2 allele of the 5-prime F7 polymorphism (613878.0013). Each was independently associated with a decreased risk of MI among patients with severe coronary atherosclerosis.

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

Last Updated: Oct 2, 2021

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