rs17268974
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001320752.2(STS):c.1082-6410T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.197 in 110,835 control chromosomes in the GnomAD database, including 1,795 homozygotes. There are 6,291 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_001320752.2 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
STS | NM_001320752.2 | c.1082-6410T>A | intron_variant | ENST00000674429.1 | NP_001307681.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
STS | ENST00000674429.1 | c.1082-6410T>A | intron_variant | NM_001320752.2 | ENSP00000501534.1 |
Frequencies
GnomAD3 genomes AF: 0.197 AC: 21860AN: 110778Hom.: 1789 Cov.: 22 AF XY: 0.191 AC XY: 6291AN XY: 33010
GnomAD4 genome AF: 0.197 AC: 21866AN: 110835Hom.: 1795 Cov.: 22 AF XY: 0.190 AC XY: 6291AN XY: 33077
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at