9-133774963-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PP3_ModerateBS2
The NM_001134398.2(VAV2):c.2107G>A(p.Glu703Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000123 in 1,461,092 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_001134398.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VAV2 | ENST00000371850.8 | c.2107G>A | p.Glu703Lys | missense_variant | Exon 25 of 30 | 1 | NM_001134398.2 | ENSP00000360916.3 | ||
VAV2 | ENST00000406606.7 | c.2077G>A | p.Glu693Lys | missense_variant | Exon 23 of 27 | 1 | ENSP00000385362.3 | |||
VAV2 | ENST00000371851.1 | c.2077G>A | p.Glu693Lys | missense_variant | Exon 23 of 28 | 5 | ENSP00000360917.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250358Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135530
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461092Hom.: 0 Cov.: 31 AF XY: 0.0000206 AC XY: 15AN XY: 726848
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2107G>A (p.E703K) alteration is located in exon 25 (coding exon 25) of the VAV2 gene. This alteration results from a G to A substitution at nucleotide position 2107, causing the glutamic acid (E) at amino acid position 703 to be replaced by a lysine (K). 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