NM_006113.5:c.67G>C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_006113.5(VAV3):āc.67G>Cā(p.Val23Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,461,728 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V23M) has been classified 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 -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VAV3 | ENST00000370056.9 | c.67G>C | p.Val23Leu | missense_variant | Exon 1 of 27 | 1 | NM_006113.5 | ENSP00000359073.4 | ||
VAV3 | ENST00000527011.5 | c.67G>C | p.Val23Leu | missense_variant | Exon 1 of 28 | 1 | ENSP00000432540.1 | |||
VAV3 | ENST00000490388.2 | c.49G>C | p.Val17Leu | missense_variant | Exon 1 of 20 | 2 | ENSP00000433559.1 | |||
VAV3-AS1 | ENST00000438318.1 | n.62+299C>G | intron_variant | Intron 1 of 2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461728Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727172
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.