12-5949041-A-G
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM2PP2PP3_Strong
The NM_000552.5(VWF):c.8416T>C(p.Cys2806Arg) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar 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 7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:2Other:1
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The VWF c.8416T>C; p.Cys2806Arg variant (rs267607372), to our knowledge, is not reported in the medical literature but is reported in the Hemobase VWF database (see link). This variant is reported in ClinVar (Variation ID: 100509) and is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The cysteine at codon 2806 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.789). However, given the lack of clinical and functional data, the significance of the p.Cys2806Arg variant is uncertain at this time. References: Hemobase VWF database: http://vwf.hemobase.com/VWF_Database/VWF_Database.htm -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at