X-131088561-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_144967.4(ARHGAP36):c.1487-67G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0857 in 1,119,907 control chromosomes in the GnomAD database, including 3,811 homozygotes. There are 30,232 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_144967.4 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 | UniProt |
---|---|---|---|---|---|---|---|
ARHGAP36 | NM_144967.4 | c.1487-67G>A | intron_variant | ENST00000276211.10 | |||
ARHGAP36 | NM_001282607.2 | c.1451-67G>A | intron_variant | ||||
ARHGAP36 | NM_001330651.1 | c.1079-67G>A | intron_variant | ||||
ARHGAP36 | XM_011531280.2 | c.1079-67G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGAP36 | ENST00000276211.10 | c.1487-67G>A | intron_variant | 2 | NM_144967.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0849 AC: 9496AN: 111822Hom.: 442 Cov.: 23 AF XY: 0.0853 AC XY: 2901AN XY: 34010
GnomAD4 exome AF: 0.0858 AC: 86442AN: 1008032Hom.: 3366 AF XY: 0.0897 AC XY: 27322AN XY: 304518
GnomAD4 genome AF: 0.0850 AC: 9514AN: 111875Hom.: 445 Cov.: 23 AF XY: 0.0854 AC XY: 2910AN XY: 34073
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at