chr1-107642692-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_006113.5(VAV3):c.1841G>A(p.Gly614Glu) variant causes a missense change. The variant allele was found at a frequency of 0.000039 in 1,613,322 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign 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 -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152040Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000639 AC: 16AN: 250530Hom.: 0 AF XY: 0.0000591 AC XY: 8AN XY: 135392
GnomAD4 exome AF: 0.0000233 AC: 34AN: 1461164Hom.: 0 Cov.: 31 AF XY: 0.0000193 AC XY: 14AN XY: 726880
GnomAD4 genome AF: 0.000191 AC: 29AN: 152158Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74376
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1841G>A (p.G614E) alteration is located in exon 20 (coding exon 20) of the VAV3 gene. This alteration results from a G to A substitution at nucleotide position 1841, causing the glycine (G) at amino acid position 614 to be replaced by a glutamic acid (E). 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