X-3013157-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001011719.2(ARSH):c.325C>T(p.Arg109Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000497 in 1,206,433 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign 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: 0.0000180 AC: 2AN: 111397Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 33593
GnomAD3 exomes AF: 0.0000168 AC: 3AN: 178069Hom.: 0 AF XY: 0.0000159 AC XY: 1AN XY: 62793
GnomAD4 exome AF: 0.00000365 AC: 4AN: 1095036Hom.: 0 Cov.: 30 AF XY: 0.00000277 AC XY: 1AN XY: 360536
GnomAD4 genome AF: 0.0000180 AC: 2AN: 111397Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 33593
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.325C>T (p.R109C) alteration is located in exon 3 (coding exon 3) of the ARSH gene. This alteration results from a C to T substitution at nucleotide position 325, causing the arginine (R) at amino acid position 109 to be replaced by a cysteine (C). 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