12-57476372-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032496.4(ARHGAP9):c.1108T>C(p.Ser370Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000744 in 1,613,446 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict 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. S370A) has been classified 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARHGAP9 | NM_032496.4 | c.1108T>C | p.Ser370Pro | missense_variant | 8/18 | ENST00000393791.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGAP9 | ENST00000393791.8 | c.1108T>C | p.Ser370Pro | missense_variant | 8/18 | 1 | NM_032496.4 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151922Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000800 AC: 2AN: 249864Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135244
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461524Hom.: 0 Cov.: 61 AF XY: 0.0000110 AC XY: 8AN XY: 727068
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151922Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74168
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at