NM_000552.5(VWF):c.6973T>A (p.Cys2325Ser) AND Von Willebrand disease, recessive form

Clinical significance:Likely pathogenic (Last evaluated: Nov 1, 2020)

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:
RCV001375808.1

Allele description [Variation Report for NM_000552.5(VWF):c.6973T>A (p.Cys2325Ser)]

NM_000552.5(VWF):c.6973T>A (p.Cys2325Ser)

Gene:
VWF:von Willebrand factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_000552.5(VWF):c.6973T>A (p.Cys2325Ser)
HGVS:
  • NC_000012.12:g.5985048A>T
  • NG_009072.1:g.144623T>A
  • NG_009072.2:g.144623T>A
  • NM_000552.5:c.6973T>AMANE SELECT
  • NP_000543.3:p.Cys2325Ser
  • LRG_587t1:c.6973T>A
  • LRG_587:g.144623T>A
  • LRG_587p1:p.Cys2325Ser
  • NC_000012.11:g.6094214A>T
  • NM_000552.3:c.6973T>A
Protein change:
C2325S
Molecular consequence:
  • NM_000552.5:c.6973T>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001572731Angelo 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
(Nov 1, 2020)
germlineclinical testing

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), SCV001572731.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

ClinGen Pathogenicity Calculator

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2021

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