rs872690
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XM_011544001.3(SYTL5):c.-356-38060T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0387 in 111,914 control chromosomes in the GnomAD database, including 210 homozygotes. There are 1,180 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
XM_011544001.3 intron
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 |
---|---|---|---|---|---|---|---|
SYTL5 | XM_011544001.3 | c.-356-38060T>C | intron_variant | ||||
SYTL5 | XM_011544002.3 | c.-356-38060T>C | intron_variant | ||||
SYTL5 | XM_017029972.1 | c.-356-38060T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.0386 AC: 4321AN: 111863Hom.: 210 Cov.: 22 AF XY: 0.0345 AC XY: 1174AN XY: 34075
GnomAD4 genome ? AF: 0.0387 AC: 4331AN: 111914Hom.: 210 Cov.: 22 AF XY: 0.0346 AC XY: 1180AN XY: 34138
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at