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NM_000552.5(VWF):c.3805_3806insT (p.Asp1269fs) AND von Willebrand disease type 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 28, 2021
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:
RCV001420496.3

Allele description [Variation Report for NM_000552.5(VWF):c.3805_3806insT (p.Asp1269fs)]

NM_000552.5(VWF):c.3805_3806insT (p.Asp1269fs)

Gene:
VWF:von Willebrand factor [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_000552.5(VWF):c.3805_3806insT (p.Asp1269fs)
HGVS:
  • NC_000012.12:g.6019612_6019613insA
  • NG_009072.2:g.110058_110059insT
  • NM_000552.5:c.3805_3806insTMANE SELECT
  • NP_000543.3:p.Asp1269fs
  • LRG_587t1:c.3805_3806insT
  • LRG_587:g.110058_110059insT
  • LRG_587p1:p.Asp1269fs
  • NC_000012.11:g.6128778_6128779insA
  • NG_009072.1:g.110058_110059insT
  • NM_000552.3:c.3805_3806insT
Protein change:
D1269fs
Links:
dbSNP: rs2136413792
NCBI 1000 Genomes Browser:
rs2136413792
Molecular consequence:
  • NM_000552.5:c.3805_3806insT - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001622517Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 28, 2021) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

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 Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV001622517.1

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

Last Updated: Aug 4, 2024