rs1220702
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005420.3(SULT1E1):c.497-10C>G variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.116 in 1,583,348 control chromosomes in the GnomAD database, including 11,928 homozygotes. 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_005420.3 splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SULT1E1 | NM_005420.3 | c.497-10C>G | splice_polypyrimidine_tract_variant, intron_variant | ENST00000226444.4 | NP_005411.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SULT1E1 | ENST00000226444.4 | c.497-10C>G | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_005420.3 | ENSP00000226444 | P1 |
Frequencies
GnomAD3 genomes AF: 0.116 AC: 17518AN: 151238Hom.: 1149 Cov.: 32
GnomAD3 exomes AF: 0.108 AC: 26451AN: 245216Hom.: 1878 AF XY: 0.108 AC XY: 14400AN XY: 132770
GnomAD4 exome AF: 0.116 AC: 166284AN: 1431992Hom.: 10777 Cov.: 24 AF XY: 0.115 AC XY: 82013AN XY: 713576
GnomAD4 genome AF: 0.116 AC: 17531AN: 151356Hom.: 1151 Cov.: 32 AF XY: 0.118 AC XY: 8752AN XY: 73958
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at