NM_000130.5(F5):c.6179G>A (p.Gly2060Asp) AND Thrombophilia due to activated protein C resistance

Germline classification:: Likely 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:: RCV003313790.2

Allele description [Variation Report for NM_000130.5(F5):c.6179G>A (p.Gly2060Asp)]

NM_000130.5(F5):c.6179G>A (p.Gly2060Asp)

Gene:

F5:coagulation factor V [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q24.2

Genomic location:

Preferred name:

NM_000130.5(F5):c.6179G>A (p.Gly2060Asp)

HGVS:

NC_000001.11:g.169520534C>T
NG_011806.1:g.70998G>A
NM_000130.5:c.6179G>AMANE SELECT
NP_000121.2:p.Gly2060Asp
NP_000121.2:p.Gly2060Asp
LRG_553t1:c.6179G>A
LRG_553:g.70998G>A
LRG_553p1:p.Gly2060Asp
NC_000001.10:g.169489772C>T
NM_000130.4:c.6179G>A

Protein change:

G2060D

Links:

dbSNP: rs1384690038

NCBI 1000 Genomes Browser:

rs1384690038

Molecular consequence:

NM_000130.5:c.6179G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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
SCV004013019	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004013019

ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV004013019.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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