ENST00000418420.1:n.117-16728A>G
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000418420.1(LINC00276):n.117-16728A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.68 in 152,126 control chromosomes in the GnomAD database, including 35,494 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
ENST00000418420.1 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LINC00276 | NR_103814.2 | n.117-16728A>G | intron_variant | Intron 1 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LINC00276 | ENST00000418420.1 | n.117-16728A>G | intron_variant | Intron 1 of 3 | 1 | |||||
LINC00276 | ENST00000417751.5 | n.122-16728A>G | intron_variant | Intron 1 of 4 | 2 | |||||
LINC00276 | ENST00000720689.1 | n.249-16728A>G | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.680 AC: 103436AN: 152008Hom.: 35478 Cov.: 33 show subpopulations
GnomAD4 genome AF: 0.680 AC: 103488AN: 152126Hom.: 35494 Cov.: 33 AF XY: 0.678 AC XY: 50445AN XY: 74350 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at