rs41271951
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_004079.5(CTSS):āc.20T>Cā(p.Val7Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0686 in 1,613,994 control chromosomes in the GnomAD database, including 4,371 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_004079.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0505 AC: 7687AN: 152170Hom.: 256 Cov.: 31
GnomAD3 exomes AF: 0.0506 AC: 12704AN: 251284Hom.: 416 AF XY: 0.0505 AC XY: 6862AN XY: 135826
GnomAD4 exome AF: 0.0705 AC: 103085AN: 1461706Hom.: 4115 Cov.: 31 AF XY: 0.0688 AC XY: 50026AN XY: 727150
GnomAD4 genome AF: 0.0505 AC: 7686AN: 152288Hom.: 256 Cov.: 31 AF XY: 0.0490 AC XY: 3646AN XY: 74468
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at