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NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter) AND von Willebrand disease type 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001787056.9

Allele description [Variation Report for NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter)]

NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter)

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.3931C>T (p.Gln1311Ter)
HGVS:
  • NC_000012.12:g.6019487G>A
  • NG_009072.2:g.110184C>T
  • NM_000552.5:c.3931C>TMANE SELECT
  • NP_000543.3:p.Gln1311Ter
  • LRG_587t1:c.3931C>T
  • LRG_587:g.110184C>T
  • LRG_587p1:p.Gln1311Ter
  • NC_000012.11:g.6128653G>A
  • NG_009072.1:g.110184C>T
  • NM_000552.2:c.3931C>T
  • NM_000552.3:c.3931C>T
  • NM_000552.4:c.3931C>T
Protein change:
Q1311*
Links:
dbSNP: rs267607337
NCBI 1000 Genomes Browser:
rs267607337
Molecular consequence:
  • NM_000552.5:c.3931C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
von Willebrand disease type 3 (VWD3)
Synonyms:
Von Willebrand disease, recessive form; Type 3 Von Willebrand's disease; Type 3 VWD; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010191; MedGen: C1264041; OMIM: 277480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001572687Angelo 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 provided
Pathogenic
(Nov 1, 2020) 		germlineclinical testing

Help

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), SCV001572687.1

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

Description

variant already reported in ClinVar

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

Last Updated: Oct 26, 2024