NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Oct 2, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000086703.2

Allele description [Variation Report for NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)]

NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)

Gene:
VWF:von Willebrand factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)
HGVS:
  • NC_000012.12:g.6019496G>A
  • NG_009072.1:g.110175C>T
  • NM_000552.4:c.3922C>T
  • NM_000552.5:c.3922C>T
  • NP_000543.2:p.Arg1308Cys
  • NC_000012.11:g.6128662G>A
  • NM_000552.2:c.3922C>T
  • NM_000552.3:c.3922C>T
  • P04275:p.Arg1308Cys
Protein change:
R1308C; ARG1308CYS
Links:
UniProtKB: P04275#VAR_005795; OMIM: 613160.0006; dbSNP: rs61749387
NCBI 1000 Genomes Browser:
rs61749387
Molecular consequence:
  • NM_000552.4:c.3922C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000118907Academic Unit of Haematology, University of Sheffieldno assertion providednot providednot providednot provided

SCV000889912Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Likely pathogenic
(Oct 2, 2019)
unknownclinical testing

PubMed (14)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Expression studies on a novel type 2B variant of the von Willebrand factor gene (R1308L) characterized by defective collagen binding.

Baronciani L, Federici AB, Beretta M, Cozzi G, Canciani MT, Mannucci PM.

J Thromb Haemost. 2005 Dec;3(12):2689-94. Epub 2005 Oct 25.

PubMed [citation]
PMID:
16246252

Biochemical characterization of a recombinant von Willebrand factor (VWF) with combined type 2B and type 1 defects in the VWF gene in two patients with a type 2A phenotype of von Willebrand disease.

Baronciani L, Federici AB, Cozzi G, Canciani MT, Mannucci PM.

J Thromb Haemost. 2007 Feb;5(2):282-8. Epub 2006 Dec 7.

PubMed [citation]
PMID:
17155947
See all PubMed Citations (14)

Details of each submission

From Academic Unit of Haematology, University of Sheffield, SCV000118907.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000889912.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (14)

Description

Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. Assessment of experimental evidence suggests this variant results in abnormal protein function.

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

Last Updated: Jan 30, 2021

Support Center