X-3010130-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001011719.2(ARSH):c.193G>A(p.Gly65Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000678 in 1,209,335 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 31 hemizygotes in GnomAD. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001011719.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000805 AC: 9AN: 111736Hom.: 0 Cov.: 23 AF XY: 0.0000295 AC XY: 1AN XY: 33916
GnomAD3 exomes AF: 0.0000932 AC: 17AN: 182406Hom.: 0 AF XY: 0.000134 AC XY: 9AN XY: 66930
GnomAD4 exome AF: 0.0000665 AC: 73AN: 1097545Hom.: 0 Cov.: 30 AF XY: 0.0000827 AC XY: 30AN XY: 362919
GnomAD4 genome AF: 0.0000805 AC: 9AN: 111790Hom.: 0 Cov.: 23 AF XY: 0.0000294 AC XY: 1AN XY: 33980
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.193G>A (p.G65S) alteration is located in exon 2 (coding exon 2) of the ARSH gene. This alteration results from a G to A substitution at nucleotide position 193, causing the glycine (G) at amino acid position 65 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