NM_000552.5(VWF):c.2435del (p.Pro812fs) AND Hereditary von Willebrand disease

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 1, 2019
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:: RCV000851752.11

Allele description [Variation Report for NM_000552.5(VWF):c.2435del (p.Pro812fs)]

NM_000552.5(VWF):c.2435del (p.Pro812fs)

Gene:

VWF:von Willebrand factor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

NM_000552.5(VWF):c.2435del (p.Pro812fs)

Other names:

p.P812R fs*31

HGVS:

NC_000012.12:g.6044303del
NG_009072.2:g.85373del
NM_000552.5:c.2435delMANE SELECT
NP_000543.3:p.Pro812fs
LRG_587t1:c.2435del
LRG_587:g.85373del
LRG_587p1:p.Pro812fs
NC_000012.11:g.6153469del
NG_009072.1:g.85373del
NM_000552.2:c.2435delC
NM_000552.3:c.2435delC
NM_000552.4:c.2435del

Note:

NCBI staff reviewed the sequence information reported in PubMed 1302613 Fig. 1 to determine the location of this allele on the current reference sequence.

Protein change:

P812fs

Links:

OMIM: 613160.0021; dbSNP: rs62643632

NCBI 1000 Genomes Browser:

rs62643632

Molecular consequence:

NM_000552.5:c.2435del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000899623	NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 1, 2019)	unknown	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 31064749
SCV002507238	GeneReviews	no classification provided	not provided	germline	literature only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000899623

NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 1, 2019)

unknown

research

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

SCV002507238

GeneReviews

no classification provided

not provided

germline

literature only

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	literature only
European	unknown	yes	1	not provided	not provided	1	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

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

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics, SCV000899623.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	European	1	not provided	not provided	research	PubMed (2)

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

From GeneReviews, SCV002507238.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

#	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: May 26, 2024

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