NM_000552.5(VWF):c.2686-1G>C AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 19, 2023
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:: RCV000086626.2

Allele description [Variation Report for NM_000552.5(VWF):c.2686-1G>C]

NM_000552.5(VWF):c.2686-1G>C

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.2686-1G>C

HGVS:

NC_000012.12:g.6031579C>G
NG_009072.2:g.98092G>C
NM_000552.4:c.2686-1G>C
NM_000552.5:c.2686-1G>CMANE SELECT
LRG_587t1:c.2686-1G>C
LRG_587:g.98092G>C
NC_000012.11:g.6140745C>G
NM_000552.2:c.2686-1G>C

Links:

dbSNP: rs61748488

NCBI 1000 Genomes Browser:

rs61748488

Molecular consequence:

NM_000552.5:c.2686-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000118830	Academic Unit of Haematology, University of Sheffield	no classification provided	not provided	not provided	not provided
SCV004221502	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (May 19, 2023)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16985174, 19506353, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000118830

Academic Unit of Haematology, University of Sheffield

no classification provided

not provided

SCV004221502

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(May 19, 2023)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).

Goodeve A, Eikenboom J, Castaman G, Rodeghiero F, Federici AB, Batlle J, Meyer D, Mazurier C, Goudemand J, Schneppenheim R, Budde U, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, Hill F, Hashemi Soteh M, Baronciani L, Hallden C, Guilliatt A, et al.

Blood. 2007 Jan 1;109(1):112-21. Epub 2006 Sep 19. Erratum in: Blood. 2008 Mar 15;111(6):3299-300.

PubMed [citation]

PMID:: 16985174

Laboratory diagnosis and molecular basis of mild von Willebrand disease type 1.

Michiels JJ, Berneman Z, Gadisseur A, van der Planken M, Schroyens W, van Vliet HH.

Acta Haematol. 2009;121(2-3):85-97. doi: 10.1159/000214847. Epub 2009 Jun 8. Review.

PubMed [citation]

PMID:: 19506353

See all PubMed Citations (3)

Details of each submission

From Academic Unit of Haematology, University of Sheffield, SCV000118830.1

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

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004221502.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The c.2686-1G>C variant disrupts a canonical splice-acceptor site and is predicted to result in the in-frame skipping of exon 21 (c.2686_2820) of the VWF gene. However, this affects only about 1% of the coding sequence and its impact on protein function is currently uncertain. In the published literature, this variant has been reported in an individual with Type 1 von Willebrand disease (PMID: 16985174 (2007)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant may affect proper VWF mRNA splicing .

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

Last Updated: Jan 6, 2024

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