rs4073918
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_182632.3(SLC6A18):c.1433C>T(p.Pro478Leu) variant causes a missense change. The variant allele was found at a frequency of 0.755 in 1,613,792 control chromosomes in the GnomAD database, including 466,262 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 same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_182632.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC6A18 | NM_182632.3 | c.1433C>T | p.Pro478Leu | missense_variant | 10/12 | ENST00000324642.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC6A18 | ENST00000324642.4 | c.1433C>T | p.Pro478Leu | missense_variant | 10/12 | 1 | NM_182632.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.768 AC: 116632AN: 151910Hom.: 45771 Cov.: 31
GnomAD3 exomes AF: 0.710 AC: 178535AN: 251440Hom.: 65737 AF XY: 0.712 AC XY: 96792AN XY: 135900
GnomAD4 exome AF: 0.754 AC: 1102313AN: 1461764Hom.: 420447 Cov.: 63 AF XY: 0.753 AC XY: 547232AN XY: 727180
GnomAD4 genome ? AF: 0.768 AC: 116727AN: 152028Hom.: 45815 Cov.: 31 AF XY: 0.758 AC XY: 56341AN XY: 74294
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at