13-41721522-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_015058.2(VWA8):c.2812G>A(p.Glu938Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,613,618 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. 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 Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VWA8 | ENST00000379310.8 | c.2812G>A | p.Glu938Lys | missense_variant | Exon 25 of 45 | 2 | NM_015058.2 | ENSP00000368612.3 | ||
VWA8 | ENST00000281496.6 | c.2812G>A | p.Glu938Lys | missense_variant | Exon 25 of 26 | 1 | ENSP00000281496.6 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152106Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250810Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135534
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1461512Hom.: 0 Cov.: 31 AF XY: 0.0000179 AC XY: 13AN XY: 727060
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152106Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74288
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2812G>A (p.E938K) alteration is located in exon 25 (coding exon 25) of the VWA8 gene. This alteration results from a G to A substitution at nucleotide position 2812, causing the glutamic acid (E) at amino acid position 938 to be replaced by a lysine (K). 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