rs17215808
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_003053.4(SLC18A1):c.418G>A(p.Gly140Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00125 in 1,613,968 control chromosomes in the GnomAD database, including 3 homozygotes. 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_003053.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC18A1 | NM_003053.4 | c.418G>A | p.Gly140Arg | missense_variant | 3/16 | ENST00000276373.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC18A1 | ENST00000276373.10 | c.418G>A | p.Gly140Arg | missense_variant | 3/16 | 1 | NM_003053.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000901 AC: 137AN: 152102Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000712 AC: 179AN: 251414Hom.: 0 AF XY: 0.000743 AC XY: 101AN XY: 135876
GnomAD4 exome AF: 0.00129 AC: 1881AN: 1461866Hom.: 3 Cov.: 30 AF XY: 0.00126 AC XY: 915AN XY: 727232
GnomAD4 genome ? AF: 0.000901 AC: 137AN: 152102Hom.: 0 Cov.: 33 AF XY: 0.000983 AC XY: 73AN XY: 74282
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at