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NM_000552.5(VWF):c.3179del (p.Cys1060fs) AND Hereditary von Willebrand disease

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 15, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000600065.4

Allele description [Variation Report for NM_000552.5(VWF):c.3179del (p.Cys1060fs)]

NM_000552.5(VWF):c.3179del (p.Cys1060fs)

Gene:
VWF:von Willebrand factor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_000552.5(VWF):c.3179del (p.Cys1060fs)
HGVS:
  • NC_000012.12:g.6025623del
  • NG_009072.2:g.104048del
  • NM_000552.5:c.3179delMANE SELECT
  • NP_000543.3:p.Cys1060fs
  • LRG_587t1:c.3179del
  • LRG_587:g.104048del
  • LRG_587p1:p.Cys1060fs
  • NC_000012.11:g.6134789del
  • NC_000012.11:g.6134789delC
  • NG_009072.1:g.104048del
  • NM_000552.3:c.3179delG
  • p.Cys1060LeufsX59
Protein change:
C1060fs
Links:
dbSNP: rs762105711
NCBI 1000 Genomes Browser:
rs762105711
Molecular consequence:
  • NM_000552.5:c.3179del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Hereditary von Willebrand disease
Identifiers:
MONDO: MONDO:0019565; MeSH: D014842; MedGen: C5703318

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000713168Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely pathogenic
(Jun 15, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000713168.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

The p.Cys1060LeufsX59 variant (NM_000552.3 c.3179delG) in VWF has not been repor ted in individuals with von Willebrand disease (VWD). Data from large population studies is insufficient to assess the frequency of this variant. This variant i s predicted to cause a frameshift, which alters the protein?s amino acid sequenc e beginning at position 1060 and leads to a premature termination codon 59 amino acids downstream. This alteration is then predicted to lead to a truncated or a bsent protein. Loss of function of the VWF gene is associated with von Willebran d disease. In summary, although additional studies are required to fully establ ish a null effect on the protein, the p.Cys1060LeufsX59 variant is likely pathog enic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Mar 16, 2024