rs755846145
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001011719.2(ARSH):c.481C>T(p.Arg161Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000298 in 1,207,940 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 16 hemizygotes in GnomAD. 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 -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000269 AC: 3AN: 111410Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33578
GnomAD3 exomes AF: 0.0000281 AC: 5AN: 177863Hom.: 0 AF XY: 0.0000479 AC XY: 3AN XY: 62677
GnomAD4 exome AF: 0.0000301 AC: 33AN: 1096530Hom.: 0 Cov.: 31 AF XY: 0.0000442 AC XY: 16AN XY: 361996
GnomAD4 genome AF: 0.0000269 AC: 3AN: 111410Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33578
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.481C>T (p.R161C) alteration is located in exon 4 (coding exon 4) of the ARSH gene. This alteration results from a C to T substitution at nucleotide position 481, causing the arginine (R) at amino acid position 161 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