4-147732356-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_024605.4(ARHGAP10):c.55C>T(p.Arg19Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000521 in 1,613,282 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024605.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARHGAP10 | NM_024605.4 | c.55C>T | p.Arg19Trp | missense_variant | Exon 1 of 23 | ENST00000336498.8 | NP_078881.3 | |
ARHGAP10 | XM_005263215.4 | c.55C>T | p.Arg19Trp | missense_variant | Exon 1 of 22 | XP_005263272.1 | ||
ARHGAP10 | XR_001741324.2 | n.269C>T | non_coding_transcript_exon_variant | Exon 1 of 16 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152054Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000360 AC: 9AN: 250120Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135574
GnomAD4 exome AF: 0.0000547 AC: 80AN: 1461228Hom.: 0 Cov.: 31 AF XY: 0.0000564 AC XY: 41AN XY: 726968
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152054Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74266
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.55C>T (p.R19W) alteration is located in exon 1 (coding exon 1) of the ARHGAP10 gene. This alteration results from a C to T substitution at nucleotide position 55, causing the arginine (R) at amino acid position 19 to be replaced by a tryptophan (W). 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