NM_000552.5(VWF):c.1533+1G>T AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 10, 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:: RCV000623981.2

Allele description [Variation Report for NM_000552.5(VWF):c.1533+1G>T]

NM_000552.5(VWF):c.1533+1G>T

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.1533+1G>T

HGVS:

NC_000012.12:g.6062953C>A
NG_009072.2:g.66718G>T
NM_000552.5:c.1533+1G>TMANE SELECT
LRG_587t1:c.1533+1G>T
LRG_587:g.66718G>T
NC_000012.11:g.6172119C>A
NM_000552.3:c.1533+1G>T

Links:

dbSNP: rs1555198839

NCBI 1000 Genomes Browser:

rs1555198839

Molecular consequence:

NM_000552.5:c.1533+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000742255	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Feb 10, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 22871923, 20492463 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000742255

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Feb 10, 2017)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients.

Yadegari H, Driesen J, Pavlova A, Biswas A, Hertfelder HJ, Oldenburg J.

Thromb Haemost. 2012 Oct;108(4):662-71. Epub 2012 Aug 7.

PubMed [citation]

PMID:: 22871923

von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.

Hickson N, Hampshire D, Winship P, Goudemand J, Schneppenheim R, Budde U, Castaman G, Rodeghiero F, Federici AB, James P, Peake I, Eikenboom J, Goodeve A; MCMDM-1VWD and ZPMCB-VWD study groups..

J Thromb Haemost. 2010 Sep;8(9):1986-93. doi: 10.1111/j.1538-7836.2010.03927.x.

PubMed [citation]

PMID:: 20492463
PMCID:: PMC3856360

Details of each submission

From Ambry Genetics, SCV000742255.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Jun 10, 2023

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