rs9544634
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000607862.5(OBI1-AS1):n.230+1881G>A 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 0.0584 in 152,200 control chromosomes in the GnomAD database, including 350 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
ENST00000607862.5 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 |
---|---|---|---|---|---|---|---|
EDNRB | NM_000115.5 | c.-51-3175C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OBI1-AS1 | ENST00000607862.5 | n.230+1881G>A | intron_variant, non_coding_transcript_variant | 1 | |||||
EDNRB | ENST00000646948.1 | c.-51-3175C>T | intron_variant | P1 |
Frequencies
GnomAD3 genomes AF: 0.0584 AC: 8889AN: 152082Hom.: 350 Cov.: 33
GnomAD4 genome AF: 0.0584 AC: 8888AN: 152200Hom.: 350 Cov.: 33 AF XY: 0.0577 AC XY: 4293AN XY: 74422
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at