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NM_000552.5(VWF):c.3390C>T (p.Cys1130=) AND von Willebrand disease type 1

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Dec 11, 2020
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000851955.2

Allele description [Variation Report for NM_000552.5(VWF):c.3390C>T (p.Cys1130=)]

NM_000552.5(VWF):c.3390C>T (p.Cys1130=)

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.3390C>T (p.Cys1130=)
Other names:
p.C1130C
HGVS:
  • NC_000012.12:g.6022888G>A
  • NG_009072.2:g.106783C>T
  • NM_000552.5:c.3390C>TMANE SELECT
  • NP_000543.3:p.Cys1130=
  • LRG_587t1:c.3390C>T
  • LRG_587:g.106783C>T
  • LRG_587p1:p.Cys1130=
  • NC_000012.11:g.6132054G>A
  • NG_009072.1:g.106783C>T
  • NM_000552.3:c.3390C>T
Links:
dbSNP: rs1591865617
NCBI 1000 Genomes Browser:
rs1591865617
Molecular consequence:
  • NM_000552.5:c.3390C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
von Willebrand disease type 1 (VWD1)
Synonyms:
VON WILLEBRAND DISEASE, TYPE I; VWD, TYPE 1
Identifiers:
MONDO: MONDO:0008668; MedGen: C1264039; Orphanet: 166078; Orphanet: 903; OMIM: 193400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000899378NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 1, 2019) 		unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

SCV002546273Laboratory of Hematology, Radboud University Medical Center - WIN study
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 11, 2020) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes7not providednot providednot providednot providedresearch
South-Asianunknownyes1not providednot provided1not providedresearch

Citations

PubMed

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

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

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics, SCV000899378.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South-Asian1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

From Laboratory of Hematology, Radboud University Medical Center - WIN study, SCV002546273.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided7not providednot providednot provided

Last Updated: Feb 14, 2024