rs17878486
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_013427.3(ARHGAP6):c.589-41121A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.173 in 111,107 control chromosomes in the GnomAD database, including 1,689 homozygotes. There are 5,521 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_013427.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARHGAP6 | NM_013427.3 | c.589-41121A>G | intron_variant | ENST00000337414.9 | NP_038286.2 | |||
AMELX | NM_001142.2 | c.55-951T>C | intron_variant | ENST00000380714.7 | NP_001133.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARHGAP6 | ENST00000337414.9 | c.589-41121A>G | intron_variant | 1 | NM_013427.3 | ENSP00000338967.4 | ||||
AMELX | ENST00000380714.7 | c.55-951T>C | intron_variant | 1 | NM_001142.2 | ENSP00000370090.3 |
Frequencies
GnomAD3 genomes AF: 0.173 AC: 19190AN: 111049Hom.: 1690 Cov.: 22 AF XY: 0.166 AC XY: 5521AN XY: 33267
GnomAD4 genome AF: 0.173 AC: 19184AN: 111107Hom.: 1689 Cov.: 22 AF XY: 0.166 AC XY: 5521AN XY: 33333
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at