rs3772219
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_019555.3(ARHGEF3):āc.1003T>Gā(p.Leu335Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.332 in 1,613,268 control chromosomes in the GnomAD database, including 92,669 homozygotes. 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 nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_019555.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.381 AC: 57929AN: 151886Hom.: 11893 Cov.: 32
GnomAD3 exomes AF: 0.349 AC: 87743AN: 251358Hom.: 16712 AF XY: 0.334 AC XY: 45444AN XY: 135862
GnomAD4 exome AF: 0.327 AC: 477624AN: 1461264Hom.: 80748 Cov.: 36 AF XY: 0.322 AC XY: 234226AN XY: 726956
GnomAD4 genome AF: 0.382 AC: 58017AN: 152004Hom.: 11921 Cov.: 32 AF XY: 0.379 AC XY: 28185AN XY: 74304
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at