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NM_000130.5(F5):c.1321C>T (p.Arg441Cys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Feb 1, 2019
Accession:
VCV000627229.2
Variation ID:
627229
Description:
single nucleotide variant
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NM_000130.5(F5):c.1321C>T (p.Arg441Cys)

Allele ID
615286
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q24.2
Genomic location
1: 169550715 (GRCh38) GRCh38 UCSC
1: 169519953 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_553:g.40817C>T
LRG_553t1:c.1321C>T LRG_553p1:p.Arg441Cys
NC_000001.10:g.169519953G>A
... more HGVS
Protein change
R441C
Other names
-
Canonical SPDI
NC_000001.11:169550714:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00005
Links
dbSNP: rs747006175
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 1, 2019 RCV000778946.2
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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
(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: SCV000899477.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Dec 05, 2018)
criteria provided, single submitter
Method: clinical testing
Factor V deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000915368.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The F5 c.1321C>T (p.Arg441Cys) missense variant has been reported in two studies in which it is found in two individuals affected with factor V deficiency, … (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
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Downes K Blood 2019 PMID: 31064749
Ser234Leu missense mutation in the A1 domain of factor V causing moderate factor V deficiency in a Chinese family. Jin PP Pathology 2009 PMID: 19900106
Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency. Delev D Haemophilia : the official journal of the World Federation of Hemophilia 2009 PMID: 19486170

Text-mined citations for rs747006175...

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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 24, 2021