X-11295537-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_013427.3(ARHGAP6):c.589-40830A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.325 in 110,548 control chromosomes in the GnomAD database, including 5,216 homozygotes. There are 10,168 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_013427.3 intron
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: 0.325 AC: 35928AN: 110493Hom.: 5213 Cov.: 22 AF XY: 0.309 AC XY: 10127AN XY: 32739
GnomAD4 genome AF: 0.325 AC: 35974AN: 110548Hom.: 5216 Cov.: 22 AF XY: 0.310 AC XY: 10168AN XY: 32804
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at