1-155947968-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001162383.2(ARHGEF2):c.2935G>A(p.Gly979Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000645 in 1,550,972 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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. G979W) has been classified as Uncertain significance.
Frequency
Consequence
NM_001162383.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152254Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000130 AC: 2AN: 153600Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 81556
GnomAD4 exome AF: 0.00000572 AC: 8AN: 1398718Hom.: 0 Cov.: 30 AF XY: 0.00000725 AC XY: 5AN XY: 689872
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152254Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74386
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at