rs6639786
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001320752.2(STS):c.-4-9762T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.358 in 110,874 control chromosomes in the GnomAD database, including 5,281 homozygotes. There are 11,426 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 | UniProt |
---|---|---|---|---|---|---|---|
STS | NM_001320752.2 | c.-4-9762T>C | intron_variant | ENST00000674429.1 | |||
STS | NM_000351.7 | c.-4-9762T>C | intron_variant | ||||
STS | NM_001320750.3 | c.33-9762T>C | intron_variant | ||||
STS | NM_001320751.2 | c.33-9762T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STS | ENST00000674429.1 | c.-4-9762T>C | intron_variant | NM_001320752.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.359 AC: 39741AN: 110822Hom.: 5281 Cov.: 22 AF XY: 0.346 AC XY: 11428AN XY: 33048
GnomAD4 genome ? AF: 0.358 AC: 39735AN: 110874Hom.: 5281 Cov.: 22 AF XY: 0.345 AC XY: 11426AN XY: 33110
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at