chrX-3015025-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_001011719.2(ARSH):c.396G>A(p.Pro132Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00329 in 1,209,358 control chromosomes in the GnomAD database, including 4 homozygotes. There are 1,192 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_001011719.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00168 AC: 187AN: 111274Hom.: 0 Cov.: 22 AF XY: 0.00140 AC XY: 47AN XY: 33488
GnomAD3 exomes AF: 0.00175 AC: 321AN: 182930Hom.: 0 AF XY: 0.00166 AC XY: 112AN XY: 67412
GnomAD4 exome AF: 0.00346 AC: 3794AN: 1098029Hom.: 4 Cov.: 31 AF XY: 0.00315 AC XY: 1145AN XY: 363387
GnomAD4 genome AF: 0.00168 AC: 187AN: 111329Hom.: 0 Cov.: 22 AF XY: 0.00140 AC XY: 47AN XY: 33553
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at