1-169731919-T-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000450.2(SELE):āc.445A>Cā(p.Ser149Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.092 in 1,612,270 control chromosomes in the GnomAD database, including 7,453 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_000450.2 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: 0.0779 AC: 11854AN: 152106Hom.: 562 Cov.: 31
GnomAD3 exomes AF: 0.0827 AC: 20737AN: 250828Hom.: 1060 AF XY: 0.0855 AC XY: 11587AN XY: 135564
GnomAD4 exome AF: 0.0934 AC: 136412AN: 1460046Hom.: 6891 Cov.: 30 AF XY: 0.0940 AC XY: 68287AN XY: 726384
GnomAD4 genome AF: 0.0779 AC: 11856AN: 152224Hom.: 562 Cov.: 31 AF XY: 0.0757 AC XY: 5634AN XY: 74440
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at