chr2-108247302-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NM_001320878.2(SULT1C3):c.108G>A(p.Trp36*) variant causes a stop gained change. The variant allele was found at a frequency of 0.0187 in 1,598,718 control chromosomes in the GnomAD database, including 452 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001320878.2 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0159 AC: 2420AN: 152108Hom.: 22 Cov.: 32
GnomAD3 exomes AF: 0.0216 AC: 5278AN: 244308Hom.: 116 AF XY: 0.0237 AC XY: 3135AN XY: 132108
GnomAD4 exome AF: 0.0190 AC: 27510AN: 1446492Hom.: 430 Cov.: 33 AF XY: 0.0203 AC XY: 14569AN XY: 718922
GnomAD4 genome AF: 0.0159 AC: 2428AN: 152226Hom.: 22 Cov.: 32 AF XY: 0.0173 AC XY: 1288AN XY: 74434
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC frequency -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at