rs2961280
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000442252.1(STEAP1B):n.129-27338T>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.506 in 151,980 control chromosomes in the GnomAD database, including 21,084 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
ENST00000442252.1 intron, non_coding_transcript
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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
STEAP1B | ENST00000442252.1 | n.129-27338T>C | intron_variant, non_coding_transcript_variant | 1 | |||||
ENST00000658234.1 | n.221-862A>G | intron_variant, non_coding_transcript_variant | |||||||
STEAP1B | ENST00000439708.1 | c.-32+32712T>C | intron_variant | 3 | |||||
STEAP1B | ENST00000650428.1 | n.160-27338T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.506 AC: 76844AN: 151862Hom.: 21071 Cov.: 31
GnomAD4 genome AF: 0.506 AC: 76887AN: 151980Hom.: 21084 Cov.: 31 AF XY: 0.497 AC XY: 36930AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at