chr2-143768024-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018460.4(ARHGAP15):c.1280C>T(p.Thr427Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000223 in 1,613,414 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018460.4 missense
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.1280C>T | p.Thr427Met | missense_variant | Exon 14 of 14 | 1 | NM_018460.4 | ENSP00000295095.6 | ||
ARHGAP15 | ENST00000549060.1 | n.213C>T | non_coding_transcript_exon_variant | Exon 2 of 2 | 3 | |||||
ENSG00000257226 | ENST00000548756.2 | n.294-1137G>A | intron_variant | Intron 2 of 2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151990Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250770Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135490
GnomAD4 exome AF: 0.0000239 AC: 35AN: 1461424Hom.: 0 Cov.: 31 AF XY: 0.0000261 AC XY: 19AN XY: 727010
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151990Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74212
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1280C>T (p.T427M) alteration is located in exon 14 (coding exon 13) of the ARHGAP15 gene. This alteration results from a C to T substitution at nucleotide position 1280, causing the threonine (T) at amino acid position 427 to be replaced by a methionine (M). 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