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NM_000130.4(F5):c.6304C>T (p.Arg2102Cys)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Feb 1, 2019
Accession:
VCV000000654.3
Variation ID:
654
Description:
single nucleotide variant
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NM_000130.4(F5):c.6304C>T (p.Arg2102Cys)

Allele ID
15693
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q24.2
Genomic location
1: 169518453 (GRCh38) GRCh38 UCSC
1: 169487691 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.169487691G>A
NC_000001.11:g.169518453G>A
NM_000130.4:c.6304C>T NP_000121.2:p.Arg2102Cys missense
... more HGVS
Protein change
R2102C
Other names
F5, ARG2074CYS
R2074C
Canonical SPDI
NC_000001.11:169518452:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA251559
UniProtKB: P12259#VAR_032701
OMIM: 612309.0012
dbSNP: rs118203910
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Feb 1, 2019 RCV000000688.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F5 - - GRCh38
GRCh37
417 439

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 01, 2019)
criteria provided, single submitter
Method: research
Factor V deficiency
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Study: ThromboGenomics
Accession: SCV000899835.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Pathogenic
(Jan 01, 2003)
no assertion criteria provided
Method: literature only
FACTOR V DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000020838.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Downes K Blood 2019 PMID: 31064749
Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein. Duga S Blood 2003 PMID: 12393490

Text-mined citations for rs118203910...

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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 Apr 08, 2021