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

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 30, 2021)
Last evaluated:
Jun 14, 2016
Accession:
VCV000012080.6
Variation ID:
12080
Description:
single nucleotide variant
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NM_019616.4(F7):c.1172G>A (p.Arg391Gln)

Allele ID
27119
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q34
Genomic location
13: 113118845 (GRCh38) GRCh38 UCSC
13: 113773159 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P08709:p.Arg413Gln
NC_000013.10:g.113773159G>A
NC_000013.11:g.113118845G>A
... more HGVS
Protein change
R413Q, R391Q, R329Q
Other names
F7, ARG353GLN
R353Q
Canonical SPDI
NC_000013.11:113118844:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.13838 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.12938
Exome Aggregation Consortium (ExAC) 0.13414
Trans-Omics for Precision Medicine (TOPMed) 0.11534
1000 Genomes Project 0.13838
The Genome Aggregation Database (gnomAD) 0.10384
Links
ClinGen: CA121855
UniProtKB: P08709#VAR_006518
OMIM: 613878.0014
dbSNP: rs6046
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, single submitter - RCV000250547.4
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000391182.2
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000396014.2
Myocardial infarction, decreased susceptibility to
risk factor 1 no assertion criteria provided Sep 14, 2000 RCV000012861.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F10 - - GRCh38
GRCh37
78 216
F7 - - GRCh38
GRCh37
160 282

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000302435.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Factor X Deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000483426.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Factor VII Deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000382744.2
Submitted: (Oct 18, 2016)
Evidence details
Publications
PubMed (1)
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001740805.3
Submitted: (Sep 02, 2021)
Evidence details
risk factor
(Sep 14, 2000)
no assertion criteria provided
Method: literature only
MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO
Allele origin: germline
OMIM
Accession: SCV000033102.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001954656.1
Submitted: (Sep 30, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Factor VII Deficiency. Perry DJ British journal of haematology 2002 PMID: 12181036
Polymorphisms in the factor VII gene and the risk of myocardial infarction in patients with coronary artery disease. Girelli D The New England journal of medicine 2000 PMID: 10984565

Text-mined citations for rs6046...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 02, 2021