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NM_000130.4(F5):c.2218C>T (p.Arg740Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 1, 2019)
Last evaluated:
Apr 27, 2017
Accession:
VCV000293622.2
Variation ID:
293622
Description:
single nucleotide variant
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NM_000130.4(F5):c.2218C>T (p.Arg740Ter)

Allele ID
277261
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q24.2
Genomic location
1: 169542872 (GRCh38) GRCh38 UCSC
1: 169512110 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.169512110G>A
NC_000001.11:g.169542872G>A
NM_000130.4:c.2218C>T NP_000121.2:p.Arg740Ter nonsense
... more HGVS
Protein change
R740*
Other names
-
Canonical SPDI
NC_000001.11:169542871:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10608192
dbSNP: rs757953549
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Apr 27, 2017 RCV000284956.2
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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
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Factor V deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000351020.3
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (3)
Comment:
The F5 c.2218C>T (p.Arg740Ter) variant, also referred to as c.2308C>T (p.Arg712Ter), is a stop-gained variant that is predicted to result in premature termination of the … (more)

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
Genetic modulation of the FV(Leiden)/normal FV ratio and risk of venous thrombosis in factor V Leiden heterozygotes. Segers O Journal of thrombosis and haemostasis : JTH 2012 PMID: 22044617
Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations. Montefusco MC Blood 2003 PMID: 12816860
A novel factor V null mutation detected in a thrombophilic patient with pseudo-homozygous APC resistance and in an asymptomatic unrelated subject. Lunghi B Blood 1998 PMID: 9694743

Text-mined citations for rs757953549...

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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