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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001622517	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 28, 2021)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001622517

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 28, 2021)

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	research

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 4, 2024

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