2-98119612-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_144992.5(VWA3B):c.391C>T(p.Arg131Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000409 in 1,613,808 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_144992.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000461 AC: 7AN: 151918Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000401 AC: 10AN: 249574Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135400
GnomAD4 exome AF: 0.0000404 AC: 59AN: 1461890Hom.: 0 Cov.: 31 AF XY: 0.0000454 AC XY: 33AN XY: 727246
GnomAD4 genome AF: 0.0000461 AC: 7AN: 151918Hom.: 0 Cov.: 32 AF XY: 0.0000674 AC XY: 5AN XY: 74174
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.391C>T (p.R131W) alteration is located in exon 4 (coding exon 3) of the VWA3B gene. This alteration results from a C to T substitution at nucleotide position 391, causing the arginine (R) at amino acid position 131 to be replaced by a tryptophan (W). 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