NM_015058.2:c.25G>C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_015058.2(VWA8):c.25G>C(p.Gly9Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000301 in 1,395,482 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_015058.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
VWA8 | NM_015058.2 | c.25G>C | p.Gly9Arg | missense_variant | Exon 1 of 45 | ENST00000379310.8 | NP_055873.1 | |
VWA8 | NM_001009814.2 | c.25G>C | p.Gly9Arg | missense_variant | Exon 1 of 26 | NP_001009814.1 | ||
VWA8-AS1 | NR_039974.1 | n.-178C>G | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VWA8 | ENST00000379310.8 | c.25G>C | p.Gly9Arg | missense_variant | Exon 1 of 45 | 2 | NM_015058.2 | ENSP00000368612.3 | ||
VWA8 | ENST00000281496.6 | c.25G>C | p.Gly9Arg | missense_variant | Exon 1 of 26 | 1 | ENSP00000281496.6 | |||
VWA8-AS1 | ENST00000612345.4 | n.71+5113C>G | intron_variant | Intron 1 of 3 | 2 | |||||
VWA8-AS1 | ENST00000611103.1 | n.-178C>G | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 4AN: 151502Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000256 AC: 5AN: 19516Hom.: 0 AF XY: 0.000350 AC XY: 4AN XY: 11420
GnomAD4 exome AF: 0.0000305 AC: 38AN: 1243980Hom.: 0 Cov.: 31 AF XY: 0.0000445 AC XY: 27AN XY: 606276
GnomAD4 genome AF: 0.0000264 AC: 4AN: 151502Hom.: 0 Cov.: 32 AF XY: 0.0000271 AC XY: 2AN XY: 73936
ClinVar
Submissions by phenotype
not specified Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at