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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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004013019ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenicgermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 16, 2024