2-98115697-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_144992.5(VWA3B):āc.242A>Gā(p.Asp81Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000465 in 1,613,828 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_144992.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000283 AC: 43AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000522 AC: 13AN: 249274Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135248
GnomAD4 exome AF: 0.0000212 AC: 31AN: 1461522Hom.: 0 Cov.: 30 AF XY: 0.0000151 AC XY: 11AN XY: 727070
GnomAD4 genome AF: 0.000289 AC: 44AN: 152306Hom.: 0 Cov.: 32 AF XY: 0.000322 AC XY: 24AN XY: 74478
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 23, 2024 | The c.242A>G (p.D81G) alteration is located in exon 3 (coding exon 2) of the VWA3B gene. This alteration results from a A to G substitution at nucleotide position 242, causing the aspartic acid (D) at amino acid position 81 to be replaced by a glycine (G). 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