rs597371
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001272046.2(VWA2):āc.392A>Gā(p.Glu131Gly) variant causes a missense change. The variant allele was found at a frequency of 0.459 in 1,608,198 control chromosomes in the GnomAD database, including 175,882 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001272046.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
VWA2 | NM_001272046.2 | c.392A>G | p.Glu131Gly | missense_variant | 6/14 | ENST00000392982.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
VWA2 | ENST00000392982.8 | c.392A>G | p.Glu131Gly | missense_variant | 6/14 | 1 | NM_001272046.2 | P1 | |
VWA2 | ENST00000603594.2 | c.-525A>G | 5_prime_UTR_variant | 5/11 | 2 | ||||
VWA2 | ENST00000298715.8 | n.642A>G | non_coding_transcript_exon_variant | 6/12 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.543 AC: 82428AN: 151682Hom.: 24589 Cov.: 31
GnomAD3 exomes AF: 0.466 AC: 115605AN: 248288Hom.: 28332 AF XY: 0.460 AC XY: 61694AN XY: 134226
GnomAD4 exome AF: 0.451 AC: 656278AN: 1456398Hom.: 151232 Cov.: 39 AF XY: 0.451 AC XY: 326299AN XY: 723944
GnomAD4 genome ? AF: 0.544 AC: 82550AN: 151800Hom.: 24650 Cov.: 31 AF XY: 0.538 AC XY: 39914AN XY: 74166
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at