rs1330910
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000607862.5(OBI1-AS1):n.230+87991C>T 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 0.0479 in 152,176 control chromosomes in the GnomAD database, including 230 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OBI1-AS1 | ENST00000607862.5 | n.230+87991C>T | intron_variant, non_coding_transcript_variant | 1 | |||||
LINC00446 | ENST00000658245.1 | n.58+9943C>T | intron_variant, non_coding_transcript_variant | ||||||
LINC00446 | ENST00000659347.1 | n.43+9943C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0479 AC: 7282AN: 152058Hom.: 230 Cov.: 32
GnomAD4 genome ? AF: 0.0479 AC: 7282AN: 152176Hom.: 230 Cov.: 32 AF XY: 0.0481 AC XY: 3576AN XY: 74404
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at