3-713686-T-A
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000420823.5(LINC01266):n.177-36529T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 151,872 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
ENST00000420823.5 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LINC01266 | NR_110118.1 | n.80-36529T>A | intron_variant | Intron 1 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LINC01266 | ENST00000420823.5 | n.177-36529T>A | intron_variant | Intron 2 of 4 | 2 | |||||
LINC01266 | ENST00000442809.1 | n.155-36529T>A | intron_variant | Intron 2 of 4 | 4 | |||||
LINC01266 | ENST00000653731.1 | n.216-36172T>A | intron_variant | Intron 2 of 5 |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151872Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151872Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74160 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at