X-3006688-G-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_001011719.2(ARSH):c.76G>A(p.Gly26Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000663 in 1,206,559 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001011719.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000901 AC: 1AN: 111045Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 33219
GnomAD3 exomes AF: 0.0000219 AC: 4AN: 182746Hom.: 0 AF XY: 0.0000149 AC XY: 1AN XY: 67194
GnomAD4 exome AF: 0.00000639 AC: 7AN: 1095514Hom.: 0 Cov.: 29 AF XY: 0.00000554 AC XY: 2AN XY: 360908
GnomAD4 genome AF: 0.00000901 AC: 1AN: 111045Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 33219
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.76G>A (p.G26S) alteration is located in exon 1 (coding exon 1) of the ARSH gene. This alteration results from a G to A substitution at nucleotide position 76, causing the glycine (G) at amino acid position 26 to be replaced by a serine (S). 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