rs151335200
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005629.4(SLC6A8):c.1515C>A(p.Asp505Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000907 in 110,276 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005629.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC6A8 | NM_005629.4 | c.1515C>A | p.Asp505Glu | missense_variant | 11/13 | ENST00000253122.10 | NP_005620.1 | |
SLC6A8 | NM_001142805.2 | c.1485C>A | p.Asp495Glu | missense_variant | 11/13 | NP_001136277.1 | ||
SLC6A8 | NM_001142806.1 | c.1170C>A | p.Asp390Glu | missense_variant | 11/13 | NP_001136278.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC6A8 | ENST00000253122.10 | c.1515C>A | p.Asp505Glu | missense_variant | 11/13 | 1 | NM_005629.4 | ENSP00000253122.5 | ||
SLC6A8 | ENST00000430077.6 | c.1170C>A | p.Asp390Glu | missense_variant | 11/13 | 2 | ENSP00000403041.2 | |||
SLC6A8 | ENST00000413787.1 | c.444C>A | p.Asp148Glu | missense_variant | 6/6 | 5 | ENSP00000400463.1 | |||
SLC6A8 | ENST00000485324.1 | n.1822C>A | non_coding_transcript_exon_variant | 4/6 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000907 AC: 1AN: 110276Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 32530
GnomAD4 exome Cov.: 34
GnomAD4 genome AF: 0.00000907 AC: 1AN: 110276Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 32530
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at