chr10-48450493-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021226.4(ARHGAP22):āc.1636G>Cā(p.Asp546His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000587 in 1,532,340 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_021226.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARHGAP22 | NM_021226.4 | c.1636G>C | p.Asp546His | missense_variant | 9/10 | ENST00000249601.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGAP22 | ENST00000249601.9 | c.1636G>C | p.Asp546His | missense_variant | 9/10 | 1 | NM_021226.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000356 AC: 5AN: 140606Hom.: 0 AF XY: 0.0000406 AC XY: 3AN XY: 73962
GnomAD4 exome AF: 0.00000580 AC: 8AN: 1380130Hom.: 0 Cov.: 37 AF XY: 0.00000590 AC XY: 4AN XY: 677944
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152210Hom.: 0 Cov.: 34 AF XY: 0.0000134 AC XY: 1AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 15, 2023 | The c.1636G>C (p.D546H) alteration is located in exon 9 (coding exon 9) of the ARHGAP22 gene. This alteration results from a G to C substitution at nucleotide position 1636, causing the aspartic acid (D) at amino acid position 546 to be replaced by a histidine (H). 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