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NM_000552.5(VWF):c.7082-2A>G

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Apr 15, 2021)
Last evaluated:
Nov 1, 2020
Accession:
VCV000100457.2
Variation ID:
100457
Description:
single nucleotide variant
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NM_000552.5(VWF):c.7082-2A>G

Allele ID
106334
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.31
Genomic location
12: 5981993 (GRCh38) GRCh38 UCSC
12: 6091159 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_587:g.147678A>G
LRG_587t1:c.7082-2A>G
NC_000012.11:g.6091159T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:5981992:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA228773
dbSNP: rs267607358
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Nov 1, 2020 RCV001375825.1
not provided 1 no assertion provided - RCV000086869.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
VWF - - GRCh38
GRCh37
1023 1077

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 01, 2020)
no assertion criteria provided
Method: clinical testing
Von Willebrand disease, recessive form
Allele origin: germline
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
Study: Type 3 Von Willebrand International Registries Inhibitor Prospective Study (3WINTERS-IPS)
Accession: SCV001572733.1
Submitted: (Apr 15, 2021)
Evidence details
Comment:
ClinGen Pathogenicity Calculator
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
Academic Unit of Haematology, University of Sheffield
Accession: SCV000119075.1
Submitted: (Jul 31, 2012)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs267607358...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021