NM_000130.4(F5):c.2218C>T (p.Arg740Ter) AND Factor V deficiency

Clinical significance:Likely pathogenic (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000284956.2

Allele description [Variation Report for NM_000130.4(F5):c.2218C>T (p.Arg740Ter)]

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

Gene:
F5:coagulation factor V [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.2
Genomic location:
Preferred name:
NM_000130.4(F5):c.2218C>T (p.Arg740Ter)
HGVS:
  • NC_000001.11:g.169542872G>A
  • NG_011806.1:g.48660C>T
  • NM_000130.4:c.2218C>T
  • NP_000121.2:p.Arg740Ter
  • LRG_553t1:c.2218C>T
  • LRG_553:g.48660C>T
  • LRG_553p1:p.Arg740Ter
  • NC_000001.10:g.169512110G>A
Protein change:
R740*
Links:
dbSNP: rs757953549
NCBI 1000 Genomes Browser:
rs757953549
Molecular consequence:
  • NM_000130.4:c.2218C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Factor V deficiency
Synonyms:
LABILE FACTOR DEFICIENCY; OWREN PARAHEMOPHILIA; PARAHEMOPHILIA
Identifiers:
MedGen: C0015499; Orphanet: 326; OMIM: 227400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000351020Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely pathogenic
(Apr 27, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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, Duga S, Asselta R, Malcovati M, Peyvandi F, Santagostino E, Mannucci PM, Tenchini ML.

Blood. 2003 Nov 1;102(9):3210-6. Epub 2003 Jun 19.

PubMed [citation]
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, Castoldi E, Mingozzi F, Bernardi F, Castaman G.

Blood. 1998 Aug 15;92(4):1463-4. No abstract available.

PubMed [citation]
PMID:
9694743
See all PubMed Citations (3)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000351020.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

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 protein. The p.Arg740Ter variant has been reported in three studies in which it is found in a compound heterozygous state in three individuals with factor V deficiency (Lunghi et al. 1998; Montefusco et al. 2003; Segers et al. 2012). Two of these individuals also carried the factor V Leiden variant and were classified as having pseudo-homozygous activated protein C (APC) resistance; factor V deficiency was also observed in these individuals (Lunghi et al. 1998; Segers et al. 2012). The p.Arg740Ter variant was also detected in one of the probands' son (affected status unknown) and in an unrelated individual who had reduced factor V levels (Lunghi et al. 1998). The variant was also found in two unaffected relatives in a heterozygous state (Montefusco et al. 2003). Control data are unavailable for this variant, which is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. Based on the evidence and the potential impact of stop-gained variants, the p.Arg740Ter variant is classified as likely pathogenic for Factor V deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Apr 12, 2021

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