rs758490338
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032496.4(ARHGAP9):c.1082G>T(p.Arg361Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000644 in 1,613,944 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032496.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000717 AC: 18AN: 250884Hom.: 0 AF XY: 0.0000958 AC XY: 13AN XY: 135732
GnomAD4 exome AF: 0.0000636 AC: 93AN: 1461752Hom.: 0 Cov.: 41 AF XY: 0.0000660 AC XY: 48AN XY: 727176
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1082G>T (p.R361L) alteration is located in exon 8 (coding exon 7) of the ARHGAP9 gene. This alteration results from a G to T substitution at nucleotide position 1082, causing the arginine (R) at amino acid position 361 to be replaced by a leucine (L). 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