8-19939160-T-G
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBA1
The ENST00000524029.5(LPL):c.-153-128T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.056 in 516,462 control chromosomes in the GnomAD database, including 3,994 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
ENST00000524029.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LPL | ENST00000524029.5 | c.-153-128T>G | intron_variant | Intron 1 of 3 | 4 | ENSP00000428237.1 | ||||
LPL | ENST00000520959.5 | c.-140-9020T>G | intron_variant | Intron 1 of 4 | 4 | ENSP00000428496.1 | ||||
LPL | ENST00000522701.5 | c.-218-63T>G | intron_variant | Intron 1 of 3 | 4 | ENSP00000428557.1 |
Frequencies
GnomAD3 genomes AF: 0.120 AC: 18284AN: 151894Hom.: 3114 Cov.: 32
GnomAD4 exome AF: 0.0290 AC: 10563AN: 364450Hom.: 859 Cov.: 0 AF XY: 0.0279 AC XY: 5298AN XY: 190104
GnomAD4 genome AF: 0.121 AC: 18349AN: 152012Hom.: 3135 Cov.: 32 AF XY: 0.117 AC XY: 8697AN XY: 74332
ClinVar
Submissions by phenotype
not provided Benign:3
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This variant is associated with the following publications: (PMID: 25566792, 27055971, 9017514, 18922999) -
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Hyperlipoproteinemia, type I Benign:1
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Hyperlipidemia, familial combined, susceptibility to Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at