NM_000130.4(F5):c.1830_1831dup (p.His611fs) AND Factor V deficiency

Clinical significance:Likely pathogenic (Last evaluated: Feb 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000852059.1

Allele description [Variation Report for NM_000130.4(F5):c.1830_1831dup (p.His611fs)]

NM_000130.4(F5):c.1830_1831dup (p.His611fs)

Gene:
F5:coagulation factor V [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q24.2
Genomic location:
Preferred name:
NM_000130.4(F5):c.1830_1831dup (p.His611fs)
HGVS:
  • NC_000001.11:g.169544440_169544441dup
  • NG_011806.1:g.47091_47092dup
  • NM_000130.4:c.1830_1831dup
  • NP_000121.2:p.His611fs
  • LRG_553t1:c.1830_1831dup
  • LRG_553:g.47091_47092dup
  • LRG_553p1:p.His611fs
  • NC_000001.10:g.169513678_169513679dup
  • NM_000130.4:c.1830_1831dupGC
Protein change:
H611fs
Links:
dbSNP: rs1571577365
NCBI 1000 Genomes Browser:
rs1571577365
Molecular consequence:
  • NM_000130.4:c.1830_1831dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000899568NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomicscriteria provided, single submitter
Likely pathogenic
(Feb 1, 2019)
unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

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

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, et al.

Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.

PubMed [citation]
PMID:
31064749
PMCID:
PMC6993014

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics, SCV000899568.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 12, 2021

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