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NM_000552.5(VWF):c.2311A>G (p.Met771Val)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Apr 15, 2021)
Last evaluated:
Nov 1, 2020
Accession:
VCV001065273.1
Variation ID:
1065273
Description:
single nucleotide variant
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NM_000552.5(VWF):c.2311A>G (p.Met771Val)

Allele ID
1053594
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.31
Genomic location
12: 6044422 (GRCh38) GRCh38 UCSC
12: 6153588 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.6153588T>C
NC_000012.12:g.6044422T>C
NM_000552.5:c.2311A>G MANE Select NP_000543.3:p.Met771Val missense
... more HGVS
Protein change
M771V
Other names
-
Canonical SPDI
NC_000012.12:6044421:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 RCV001375783.1
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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: SCV001572655.1
Submitted: (Apr 15, 2021)
Evidence details
Comment:
ClinGen Pathogenicity Calculator

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.

Record last updated May 01, 2021