rs762573767
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_022834.5(VWA1):c.94C>A(p.Arg32Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000218 in 1,607,494 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_022834.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VWA1 | ENST00000476993.2 | c.94C>A | p.Arg32Arg | synonymous_variant | Exon 2 of 3 | 1 | NM_022834.5 | ENSP00000417185.1 | ||
VWA1 | ENST00000471398.1 | c.214C>A | p.Arg72Arg | synonymous_variant | Exon 2 of 2 | 3 | ENSP00000464343.1 | |||
VWA1 | ENST00000495558 | c.-12C>A | 5_prime_UTR_variant | Exon 2 of 2 | 2 | ENSP00000463643.1 | ||||
VWA1 | ENST00000338660.5 | c.74-375C>A | intron_variant | Intron 1 of 2 | 2 | ENSP00000423404.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152216Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000531 AC: 13AN: 244670Hom.: 0 AF XY: 0.0000827 AC XY: 11AN XY: 133032
GnomAD4 exome AF: 0.0000220 AC: 32AN: 1455278Hom.: 0 Cov.: 31 AF XY: 0.0000360 AC XY: 26AN XY: 723194
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152216Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74368
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at