rs140686670
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PP3_StrongBS2
The NM_001011719.2(ARSH):c.319G>A(p.Gly107Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000124 in 1,208,310 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 3 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
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000538 AC: 6AN: 111491Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 33661
GnomAD3 exomes AF: 0.0000222 AC: 4AN: 180009Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 64581
GnomAD4 exome AF: 0.00000821 AC: 9AN: 1096819Hom.: 0 Cov.: 30 AF XY: 0.00000828 AC XY: 3AN XY: 362231
GnomAD4 genome AF: 0.0000538 AC: 6AN: 111491Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 33661
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.319G>A (p.G107S) alteration is located in exon 3 (coding exon 3) of the ARSH gene. This alteration results from a G to A substitution at nucleotide position 319, causing the glycine (G) at amino acid position 107 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