13-41719625-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_015058.2(VWA8):c.3082G>A(p.Gly1028Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000583 in 1,613,018 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015058.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VWA8 | ENST00000379310.8 | c.3082G>A | p.Gly1028Arg | missense_variant | Exon 26 of 45 | 2 | NM_015058.2 | ENSP00000368612.3 | ||
VWA8 | ENST00000281496.6 | c.3082G>A | p.Gly1028Arg | missense_variant | Exon 26 of 26 | 1 | ENSP00000281496.6 |
Frequencies
GnomAD3 genomes AF: 0.000178 AC: 27AN: 151972Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000758 AC: 19AN: 250718Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135508
GnomAD4 exome AF: 0.0000459 AC: 67AN: 1460928Hom.: 0 Cov.: 31 AF XY: 0.0000399 AC XY: 29AN XY: 726792
GnomAD4 genome AF: 0.000178 AC: 27AN: 152090Hom.: 0 Cov.: 32 AF XY: 0.000202 AC XY: 15AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3082G>A (p.G1028R) alteration is located in exon 26 (coding exon 26) of the VWA8 gene. This alteration results from a G to A substitution at nucleotide position 3082, causing the glycine (G) at amino acid position 1028 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at