rs17246666
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The ENST00000453902.1(LINC01456):n.475-720C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0291 in 112,418 control chromosomes in the GnomAD database, including 40 homozygotes. There are 905 hemizygotes in GnomAD. 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
ENST00000453902.1 intron
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LINC01456 | NR_133641.1 | n.475-720C>T | intron_variant | Intron 4 of 4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LINC01456 | ENST00000453902.1 | n.475-720C>T | intron_variant | Intron 4 of 4 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0292 AC: 3278AN: 112364Hom.: 40 Cov.: 23 AF XY: 0.0262 AC XY: 904AN XY: 34516
GnomAD4 genome AF: 0.0291 AC: 3276AN: 112418Hom.: 40 Cov.: 23 AF XY: 0.0262 AC XY: 905AN XY: 34578
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at