rs1390938
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003053.4(SLC18A1):āc.407T>Cā(p.Ile136Thr) variant causes a missense change. The variant allele was found at a frequency of 0.746 in 1,613,946 control chromosomes in the GnomAD database, including 452,579 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 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_003053.4 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: 0.774 AC: 117626AN: 151974Hom.: 46276 Cov.: 31
GnomAD3 exomes AF: 0.714 AC: 179530AN: 251432Hom.: 65669 AF XY: 0.715 AC XY: 97193AN XY: 135888
GnomAD4 exome AF: 0.743 AC: 1086328AN: 1461854Hom.: 406251 Cov.: 65 AF XY: 0.741 AC XY: 538907AN XY: 727232
GnomAD4 genome AF: 0.774 AC: 117731AN: 152092Hom.: 46328 Cov.: 31 AF XY: 0.766 AC XY: 56919AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at