15-32624215-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014783.6(ARHGAP11A):āc.340C>Gā(p.Pro114Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000292 in 1,612,278 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014783.6 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 |
---|---|---|---|---|---|---|---|
ARHGAP11A | NM_014783.6 | c.340C>G | p.Pro114Ala | missense_variant | 4/12 | ENST00000361627.8 | |
ARHGAP11A-SCG5 | NM_001368319.1 | c.340C>G | p.Pro114Ala | missense_variant | 4/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGAP11A | ENST00000361627.8 | c.340C>G | p.Pro114Ala | missense_variant | 4/12 | 1 | NM_014783.6 | P1 | |
ENST00000647892.1 | n.2119G>C | non_coding_transcript_exon_variant | 5/5 |
Frequencies
GnomAD3 genomes AF: 0.000179 AC: 27AN: 150974Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000323 AC: 8AN: 247830Hom.: 0 AF XY: 0.0000297 AC XY: 4AN XY: 134520
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461304Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 726952
GnomAD4 genome AF: 0.000179 AC: 27AN: 150974Hom.: 0 Cov.: 30 AF XY: 0.000217 AC XY: 16AN XY: 73610
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at