Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000552.4(VWF):c.7682T>A (p.Phe2561Tyr)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
May 1, 2019
Accession:
VCV000256698.7
Variation ID:
256698
Description:
single nucleotide variant
Help

NM_000552.4(VWF):c.7682T>A (p.Phe2561Tyr)

Allele ID
254654
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.31
Genomic location
12: 5969258 (GRCh38) GRCh38 UCSC
12: 6078424 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.6078424A>T
NC_000012.12:g.5969258A>T
NM_000552.4:c.7682T>A NP_000543.2:p.Phe2561Tyr missense
NG_009072.1:g.160413T>A
Protein change
F2561Y
Other names
-
Canonical SPDI
NC_000012.12:5969257:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.01957 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.03876
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.03829
Trans-Omics for Precision Medicine (TOPMed) 0.03567
The Genome Aggregation Database (gnomAD), exomes 0.03730
1000 Genomes Project 0.01957
The Genome Aggregation Database (gnomAD) 0.04403
Links
ClinGen: CA6401588
dbSNP: rs35335161
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter - RCV000252234.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000368572.1
Likely benign 1 criteria provided, single submitter May 1, 2019 RCV000994793.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
VWF - - GRCh38
GRCh37
1003 1057

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000305335.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(May 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001148563.6
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
von Willebrand Disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000380559.2
Submitted: (Oct 18, 2016)
Evidence details

Functional evidence

Help
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

Help
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 rs35335161...

Help
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 Jul 10, 2021