rs201605046
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_ModerateBP6_ModerateBP7BS1BS2
The NM_001044.5(SLC6A3):c.1137C>T(p.Ile379Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000562 in 1,612,556 control chromosomes in the GnomAD database, including 8 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001044.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000434 AC: 66AN: 152022Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000767 AC: 192AN: 250192Hom.: 3 AF XY: 0.000966 AC XY: 131AN XY: 135662
GnomAD4 exome AF: 0.000575 AC: 840AN: 1460416Hom.: 7 Cov.: 32 AF XY: 0.000679 AC XY: 493AN XY: 726520
GnomAD4 genome AF: 0.000434 AC: 66AN: 152140Hom.: 1 Cov.: 32 AF XY: 0.000538 AC XY: 40AN XY: 74378
ClinVar
Submissions by phenotype
Parkinsonism-dystonia, infantile Benign:1
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SLC6A3-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at