4-85994903-C-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001025616.3(ARHGAP24):c.1249C>G(p.Pro417Ala) variant causes a missense change. The variant allele was found at a frequency of 0.0155 in 1,614,032 control chromosomes in the GnomAD database, including 293 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P417L) has been classified as Likely benign.
Frequency
Consequence
NM_001025616.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARHGAP24 | NM_001025616.3 | c.1249C>G | p.Pro417Ala | missense_variant | 9/10 | ENST00000395184.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGAP24 | ENST00000395184.6 | c.1249C>G | p.Pro417Ala | missense_variant | 9/10 | 2 | NM_001025616.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0120 AC: 1822AN: 152030Hom.: 23 Cov.: 31
GnomAD3 exomes AF: 0.0128 AC: 3224AN: 251302Hom.: 48 AF XY: 0.0129 AC XY: 1753AN XY: 135800
GnomAD4 exome AF: 0.0159 AC: 23201AN: 1461882Hom.: 270 Cov.: 33 AF XY: 0.0156 AC XY: 11341AN XY: 727244
GnomAD4 genome ? AF: 0.0120 AC: 1822AN: 152150Hom.: 23 Cov.: 31 AF XY: 0.0118 AC XY: 874AN XY: 74378
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 30, 2024 | - - |
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Oct 14, 2022 | See Variant Classification Assertion Criteria. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at