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NM_000130.5(F5):c.5646G>A (p.Trp1882Ter) AND Thrombophilia due to activated protein C resistance

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV001096268.4

Allele description [Variation Report for NM_000130.5(F5):c.5646G>A (p.Trp1882Ter)]

NM_000130.5(F5):c.5646G>A (p.Trp1882Ter)

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.5646G>A (p.Trp1882Ter)
HGVS:
  • NC_000001.11:g.169525971C>T
  • NG_011806.1:g.65561G>A
  • NM_000130.5:c.5646G>AMANE SELECT
  • NP_000121.2:p.Trp1882Ter
  • NP_000121.2:p.Trp1882Ter
  • LRG_553t1:c.5646G>A
  • LRG_553:g.65561G>A
  • LRG_553p1:p.Trp1882Ter
  • NC_000001.10:g.169495209C>T
  • NM_000130.4:c.5646G>A
Protein change:
W1882*
Links:
dbSNP: rs1557908012
NCBI 1000 Genomes Browser:
rs1557908012
Molecular consequence:
  • NM_000130.5:c.5646G>A - nonsense - [Sequence Ontology: SO:0001587]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001252467Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Apr 27, 2017) 		germlineclinical testing

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

Citation Link

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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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001252467.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
2not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
2germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024