NM_000130.4(F5):c.1601G>A (p.Arg534Gln) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001095681.10

Allele description [Variation Report for NM_000130.4(F5):c.1601G>A (p.Arg534Gln)]

NM_000130.4(F5):c.1601G>A (p.Arg534Gln)

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.1601G>A (p.Arg534Gln)

Other names:

F5, ARG506GLN; R506Q; F5:c.1601G>A (p.Arg534Gln); factor V Leiden

HGVS:

NC_000001.11:g.169549811C>T
NG_011806.1:g.41721G>A
NM_000130.5:c.1601G>AMANE SELECT
NP_000121.2:p.Arg534Gln
NP_000121.2:p.Arg534Gln
LRG_553t1:c.1601G>A
LRG_553:g.41721G>A
NC_000001.10:g.169519049=
NC_000001.10:g.169519049T=
NM_000130.4:c.1601G>A
NM_00130.4:c.1601G>A
P12259:p.Arg534Gln
p.Arg506Gln
p.Gln534=

Protein change:

R534Q; ARG506GLN

Links:

Genetic Testing Registry (GTR): GTR000509357; Genetic Testing Registry (GTR): GTR000613302; UniProtKB: P12259#VAR_001213; OMIM: 612309.0001; dbSNP: rs6025

NCBI 1000 Genomes Browser:

rs6025

Molecular consequence:

NM_000130.5:c.1601G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Factor V deficiency
Synonyms:: Reduced coagulation factor V activity
Identifiers:: MONDO: MONDO:0020586; MedGen: C4317320; Orphanet: 326; Human Phenotype Ontology: HP:0003225

Name:: Thrombophilia due to activated protein C resistance (THPH2)
Synonyms:: PCCF DEFICIENCY; PROC COFACTOR DEFICIENCY; THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008560; MedGen: C1861171; OMIM: 188055

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001251455	UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - NSIGHT-NC NEXUS	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	research	PubMed (3) [See all records that cite these PMIDs] 12421138, 16931580, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001251455

UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - NSIGHT-NC NEXUS

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	2	not provided	not provided	not provided	not provided	research

Citations

PubMed

Clinical utility of factor V leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders.

Press RD, Bauer KA, Kujovich JL, Heit JA.

Arch Pathol Lab Med. 2002 Nov;126(11):1304-18. Review.

PubMed [citation]

PMID:: 12421138

Phenotypic Heterogeneity in Patients with Homozygous Prothrombin 20210AA Genotype. A paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology.

Bosler D, Mattson J, Crisan D.

J Mol Diagn. 2006 Sep;8(4):420-5. Review.

PubMed [citation]

PMID:: 16931580
PMCID:: PMC1867627

See all PubMed Citations (3)

Details of each submission

From UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - NSIGHT-NC NEXUS, SCV001251455.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	research	PubMed (3)

Description

Factor V Leiden variant (F5 c.1601G>A (p.R534Q)) is associated with an increased risk of blood clotting (thrombophilia). Factor V Leiden is the most common inherited form of thrombophilia. Individuals homozygous for Factor V Leiden have an estimated 40 to 80 fold increased risk of venous thrombosis compared to individuals without Factor V Leiden (PMID: 12421138; 16931580).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Nov 30, 2024

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