NM_000552.5(VWF):c.2157del (p.Asp720fs) AND Von Willebrand disease, recessive form

Clinical significance:Likely pathogenic (Last evaluated: Apr 12, 2021)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001375755.1

Allele description [Variation Report for NM_000552.5(VWF):c.2157del (p.Asp720fs)]

NM_000552.5(VWF):c.2157del (p.Asp720fs)

Gene:
VWF:von Willebrand factor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_000552.5(VWF):c.2157del (p.Asp720fs)
HGVS:
  • NC_000012.12:g.6052573del
  • NG_009072.1:g.77099del
  • NG_009072.2:g.77099del
  • NM_000552.5:c.2157delMANE SELECT
  • NP_000543.3:p.Asp720fs
  • LRG_587t1:c.2157del
  • LRG_587:g.77099del
  • LRG_587p1:p.Asp720fs
  • NC_000012.11:g.6161739del
  • NM_000552.2:c.2157delA
  • NM_000552.3:c.2157delA
Protein change:
D720fs
Links:
dbSNP: rs62643628
NCBI 1000 Genomes Browser:
rs62643628
Molecular consequence:
  • NM_000552.5:c.2157del - 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
SCV001572647Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico - Type 3 Von Willebrand International Registries Inhibitor Prospective Study (3WINTERS-IPS)no assertion criteria providedLikely pathogenic
(Apr 12, 2021)
germlineclinical testing

www.varsome.com

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico - Type 3 Von Willebrand International Registries Inhibitor Prospective Study (3WINTERS-IPS), SCV001572647.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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