9-84285454-T-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001199633.2(SLC28A3):c.1538A>T(p.Tyr513Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0661 in 1,614,062 control chromosomes in the GnomAD database, including 4,117 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_001199633.2 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: 0.0906 AC: 13785AN: 152090Hom.: 752 Cov.: 32
GnomAD3 exomes AF: 0.0724 AC: 18178AN: 251240Hom.: 803 AF XY: 0.0723 AC XY: 9811AN XY: 135770
GnomAD4 exome AF: 0.0636 AC: 92958AN: 1461854Hom.: 3361 Cov.: 32 AF XY: 0.0636 AC XY: 46236AN XY: 727220
GnomAD4 genome AF: 0.0907 AC: 13809AN: 152208Hom.: 756 Cov.: 32 AF XY: 0.0923 AC XY: 6864AN XY: 74404
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at