rs11550721
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_002970.4(SAT1):c.-158C>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.199 in 492,990 control chromosomes in the GnomAD database, including 8,542 homozygotes. There are 30,372 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_002970.4 5_prime_UTR
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 |
---|---|---|---|---|---|---|---|---|
SAT1 | NM_002970.4 | c.-158C>T | 5_prime_UTR_variant | 1/6 | ENST00000379270.5 | NP_002961.1 | ||
SAT1 | NR_027783.3 | n.22C>T | non_coding_transcript_exon_variant | 1/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SAT1 | ENST00000379270.5 | c.-158C>T | 5_prime_UTR_variant | 1/6 | 1 | NM_002970.4 | ENSP00000368572 | P1 |
Frequencies
GnomAD3 genomes AF: 0.168 AC: 18744AN: 111404Hom.: 1591 Cov.: 23 AF XY: 0.161 AC XY: 5394AN XY: 33606
GnomAD4 exome AF: 0.208 AC: 79322AN: 381535Hom.: 6950 Cov.: 5 AF XY: 0.201 AC XY: 24976AN XY: 124315
GnomAD4 genome AF: 0.168 AC: 18749AN: 111455Hom.: 1592 Cov.: 23 AF XY: 0.160 AC XY: 5396AN XY: 33667
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at