rs2024917
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_138780.3(SYTL5):c.329+7287C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.293 in 110,586 control chromosomes in the GnomAD database, including 3,932 homozygotes. There are 9,253 hemizygotes 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_138780.3 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SYTL5 | NM_138780.3 | c.329+7287C>T | intron_variant | ENST00000297875.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SYTL5 | ENST00000297875.7 | c.329+7287C>T | intron_variant | 5 | NM_138780.3 | P4 | |||
SYTL5 | ENST00000456733.2 | c.329+7287C>T | intron_variant | 1 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.293 AC: 32432AN: 110536Hom.: 3930 Cov.: 23 AF XY: 0.282 AC XY: 9241AN XY: 32820
GnomAD4 genome ? AF: 0.293 AC: 32439AN: 110586Hom.: 3932 Cov.: 23 AF XY: 0.281 AC XY: 9253AN XY: 32880
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at