rs6348
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The NM_001044.5(SLC6A3):c.810C>T(p.Ala270=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.014 in 1,613,388 control chromosomes in the GnomAD database, including 2,576 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. A270A) has been classified as Likely benign.
Frequency
Consequence
NM_001044.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC6A3 | NM_001044.5 | c.810C>T | p.Ala270= | synonymous_variant | 6/15 | ENST00000270349.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC6A3 | ENST00000270349.12 | c.810C>T | p.Ala270= | synonymous_variant | 6/15 | 1 | NM_001044.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0725 AC: 11038AN: 152180Hom.: 1321 Cov.: 33
GnomAD3 exomes AF: 0.0199 AC: 4979AN: 250576Hom.: 568 AF XY: 0.0146 AC XY: 1986AN XY: 135618
GnomAD4 exome AF: 0.00791 AC: 11560AN: 1461090Hom.: 1257 Cov.: 33 AF XY: 0.00697 AC XY: 5066AN XY: 726794
GnomAD4 genome ? AF: 0.0725 AC: 11049AN: 152298Hom.: 1319 Cov.: 33 AF XY: 0.0698 AC XY: 5200AN XY: 74480
ClinVar
Submissions by phenotype
Parkinsonism-dystonia, infantile Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 30, 2024 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 05, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at