rs61750630
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP2PP3_ModeratePP5
The NM_000552.5(VWF):c.7085G>T(p.Cys2362Phe) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,461,272 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C2362W) has been classified as Uncertain significance.
Frequency
Consequence
NM_000552.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
VWF | NM_000552.5 | c.7085G>T | p.Cys2362Phe | missense_variant | 42/52 | ENST00000261405.10 | |
VWF | XM_047429501.1 | c.7085G>T | p.Cys2362Phe | missense_variant | 42/52 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
VWF | ENST00000261405.10 | c.7085G>T | p.Cys2362Phe | missense_variant | 42/52 | 1 | NM_000552.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461272Hom.: 0 Cov.: 41 AF XY: 0.00000275 AC XY: 2AN XY: 726924
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
von Willebrand disease type 3 Pathogenic:2
Pathogenic, no assertion criteria provided | literature only | OMIM | May 01, 2006 | - - |
Pathogenic, no assertion criteria provided | clinical testing | Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico | Nov 01, 2020 | ClinGen Pathogenicity Calculator - |
not provided Other:1
not provided, no classification provided | literature only | Academic Unit of Haematology, University of Sheffield | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at