rs12720154
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000607862.5(OBI1-AS1):n.230+9134T>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 0.176 in 152,138 control chromosomes in the GnomAD database, including 2,807 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
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 | UniProt |
---|---|---|---|---|---|---|---|
EDNRB | NM_000115.5 | c.-51-10428A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OBI1-AS1 | ENST00000607862.5 | n.230+9134T>C | intron_variant, non_coding_transcript_variant | 1 | |||||
EDNRB | ENST00000646948.1 | c.-51-10428A>G | intron_variant | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.176 AC: 26734AN: 152020Hom.: 2806 Cov.: 33
GnomAD4 genome ? AF: 0.176 AC: 26744AN: 152138Hom.: 2807 Cov.: 33 AF XY: 0.182 AC XY: 13530AN XY: 74368
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at