2-143155653-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018460.4(ARHGAP15):c.163C>A(p.Pro55Thr) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.0000148 in 1,553,620 control chromosomes in the GnomAD database, with no homozygous occurrence. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018460.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARHGAP15 | ENST00000295095.11 | c.163C>A | p.Pro55Thr | missense_variant, splice_region_variant | Exon 2 of 14 | 1 | NM_018460.4 | ENSP00000295095.6 | ||
ARHGAP15 | ENST00000409869.5 | c.163C>A | p.Pro55Thr | missense_variant, splice_region_variant | Exon 3 of 7 | 5 | ENSP00000386560.1 | |||
ARHGAP15 | ENST00000552641.5 | n.231C>A | splice_region_variant, non_coding_transcript_exon_variant | Exon 2 of 8 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151714Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000250 AC: 5AN: 200134Hom.: 0 AF XY: 0.0000182 AC XY: 2AN XY: 109644
GnomAD4 exome AF: 0.0000143 AC: 20AN: 1401906Hom.: 0 Cov.: 31 AF XY: 0.0000158 AC XY: 11AN XY: 695386
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151714Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74062
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.163C>A (p.P55T) alteration is located in exon 2 (coding exon 1) of the ARHGAP15 gene. This alteration results from a C to A substitution at nucleotide position 163, causing the proline (P) at amino acid position 55 to be replaced by a threonine (T). 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