chr12-84870610-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_182767.6(SLC6A15):c.1363G>A(p.Ala455Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,459,770 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182767.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC6A15 | NM_182767.6 | c.1363G>A | p.Ala455Thr | missense_variant | Exon 9 of 12 | ENST00000266682.10 | NP_877499.1 | |
SLC6A15 | NM_001146335.3 | c.1042G>A | p.Ala348Thr | missense_variant | Exon 8 of 11 | NP_001139807.1 | ||
SLC6A15 | XM_011538525.4 | c.1363G>A | p.Ala455Thr | missense_variant | Exon 9 of 10 | XP_011536827.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249536Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134870
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459770Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726168
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1363G>A (p.A455T) alteration is located in exon 9 (coding exon 8) of the SLC6A15 gene. This alteration results from a G to A substitution at nucleotide position 1363, causing the alanine (A) at amino acid position 455 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at