rs727519
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001320752.2(STS):c.-5+23196G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.235 in 111,777 control chromosomes in the GnomAD database, including 2,523 homozygotes. There are 8,188 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.-5+23196G>C | intron_variant | ENST00000674429.1 | |||
STS | NM_001320750.3 | c.32+23196G>C | intron_variant | ||||
STS | NM_001320751.2 | c.32+23196G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STS | ENST00000674429.1 | c.-5+23196G>C | intron_variant | NM_001320752.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.235 AC: 26246AN: 111725Hom.: 2525 Cov.: 23 AF XY: 0.241 AC XY: 8175AN XY: 33957
GnomAD4 genome ? AF: 0.235 AC: 26253AN: 111777Hom.: 2523 Cov.: 23 AF XY: 0.241 AC XY: 8188AN XY: 34019
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at