rs764073583
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001272046.2(VWA2):c.959G>A(p.Cys320Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000498 in 1,604,988 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001272046.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VWA2 | ENST00000392982.8 | c.959G>A | p.Cys320Tyr | missense_variant | Exon 10 of 14 | 1 | NM_001272046.2 | ENSP00000376708.3 | ||
VWA2 | ENST00000603594.2 | c.43G>A | p.Ala15Thr | missense_variant | Exon 9 of 11 | 2 | ENSP00000473752.2 | |||
VWA2 | ENST00000298715.8 | n.1209G>A | non_coding_transcript_exon_variant | Exon 10 of 12 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152256Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000838 AC: 2AN: 238524Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 129292
GnomAD4 exome AF: 0.00000344 AC: 5AN: 1452732Hom.: 0 Cov.: 31 AF XY: 0.00000554 AC XY: 4AN XY: 722416
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152256Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74392
ClinVar
Submissions by phenotype
VWA2-related disorder Uncertain:1
The VWA2 c.959G>A variant is predicted to result in the amino acid substitution p.Cys320Tyr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-116044691-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at