12-209959-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001122848.3(SLC6A12):āc.28T>Cā(p.Cys10Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.524 in 1,613,410 control chromosomes in the GnomAD database, including 224,172 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_001122848.3 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: 0.561 AC: 85164AN: 151886Hom.: 24488 Cov.: 32
GnomAD3 exomes AF: 0.515 AC: 129294AN: 251198Hom.: 34191 AF XY: 0.517 AC XY: 70198AN XY: 135790
GnomAD4 exome AF: 0.520 AC: 759700AN: 1461406Hom.: 199635 Cov.: 47 AF XY: 0.521 AC XY: 379003AN XY: 727032
GnomAD4 genome AF: 0.561 AC: 85266AN: 152004Hom.: 24537 Cov.: 32 AF XY: 0.556 AC XY: 41329AN XY: 74276
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at