4-147866719-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024605.4(ARHGAP10):c.605C>T(p.Ser202Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000248 in 1,612,616 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024605.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARHGAP10 | NM_024605.4 | c.605C>T | p.Ser202Leu | missense_variant | Exon 7 of 23 | ENST00000336498.8 | NP_078881.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152034Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250608Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135438
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460582Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 726622
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152034Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74242
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.605C>T (p.S202L) alteration is located in exon 7 (coding exon 7) of the ARHGAP10 gene. This alteration results from a C to T substitution at nucleotide position 605, causing the serine (S) at amino acid position 202 to be replaced by a leucine (L). 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