NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs) AND Von Willebrand disease, recessive form

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:
RCV000851874.1

Allele description [Variation Report for NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs)]

NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs)

Gene:
VWF:von Willebrand factor [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs)
HGVS:
  • NC_000012.12:g.5969275_5969276insCT
  • NG_009072.1:g.160395_160396insAG
  • NG_009072.2:g.160395_160396insAG
  • NM_000552.5:c.7664_7665insAGMANE SELECT
  • NP_000543.3:p.Cys2557fs
  • LRG_587t1:c.7664_7665insAG
  • LRG_587:g.160395_160396insAG
  • LRG_587p1:p.Cys2557fs
  • NC_000012.11:g.6078441_6078442insCT
  • NM_000552.2:c.7664_7665insAG
  • NM_000552.3:c.7664_7665insAG
Protein change:
C2557fs
Links:
dbSNP: rs267607364
NCBI 1000 Genomes Browser:
rs267607364
Molecular consequence:
  • NM_000552.5:c.7664_7665insAG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Von Willebrand disease, recessive form (VWD3)
Synonyms:
Type 3 Von Willebrand's disease; Type 3 VWD; Von Willebrand disease, severe form; See all synonyms [MedGen]
Identifiers:
MedGen: C1848525; OMIM: 277480

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000899907NIHR 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
Europeanunknownyes1not 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, SCV000899907.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 25, 2021

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