ENST00000430192.5:n.89+12175G>A
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000430192.5(LINC00299):n.89+12175G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.844 in 152,136 control chromosomes in the GnomAD database, including 54,556 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
ENST00000430192.5 intron
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LINC00299 | ENST00000430192.5 | n.89+12175G>A | intron_variant | Intron 1 of 7 | 1 | |||||
LINC00299 | ENST00000442956.1 | n.453+359G>A | intron_variant | Intron 3 of 9 | 2 | |||||
LINC00299 | ENST00000668369.1 | n.99-9942G>A | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.843 AC: 128207AN: 152018Hom.: 54494 Cov.: 31 show subpopulations
GnomAD4 genome AF: 0.844 AC: 128330AN: 152136Hom.: 54556 Cov.: 31 AF XY: 0.840 AC XY: 62459AN XY: 74378 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at