1-107964851-A-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_006113.5(VAV3):c.19T>G(p.Cys7Gly) variant causes a missense change. The variant allele was found at a frequency of 0.000467 in 1,607,960 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006113.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VAV3 | ENST00000370056.9 | c.19T>G | p.Cys7Gly | missense_variant | Exon 1 of 27 | 1 | NM_006113.5 | ENSP00000359073.4 | ||
VAV3 | ENST00000527011.5 | c.19T>G | p.Cys7Gly | missense_variant | Exon 1 of 28 | 1 | ENSP00000432540.1 | |||
VAV3 | ENST00000490388.2 | c.1T>G | p.Cys1Gly | missense_variant | Exon 1 of 20 | 2 | ENSP00000433559.1 | |||
VAV3-AS1 | ENST00000438318.1 | n.62+347A>C | intron_variant | Intron 1 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000224 AC: 34AN: 151958Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000268 AC: 65AN: 242264Hom.: 0 AF XY: 0.000266 AC XY: 35AN XY: 131716
GnomAD4 exome AF: 0.000492 AC: 717AN: 1456002Hom.: 1 Cov.: 31 AF XY: 0.000492 AC XY: 356AN XY: 724122
GnomAD4 genome AF: 0.000224 AC: 34AN: 151958Hom.: 0 Cov.: 32 AF XY: 0.000216 AC XY: 16AN XY: 74242
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.19T>G (p.C7G) alteration is located in exon 1 (coding exon 1) of the VAV3 gene. This alteration results from a T to G substitution at nucleotide position 19, causing the cysteine (C) at amino acid position 7 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