8-19939433-GCC-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_000237.3(LPL):c.-5_-4delCC variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000199 in 1,605,048 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000237.3 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LPL | NM_000237.3 | c.-5_-4delCC | 5_prime_UTR_variant | Exon 1 of 10 | ENST00000650287.1 | NP_000228.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000855 AC: 13AN: 152088Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000217 AC: 5AN: 230410Hom.: 0 AF XY: 0.0000159 AC XY: 2AN XY: 125874
GnomAD4 exome AF: 0.0000124 AC: 18AN: 1452842Hom.: 0 AF XY: 0.00000969 AC XY: 7AN XY: 722054
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152206Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74406
ClinVar
Submissions by phenotype
Cardiovascular phenotype Uncertain:1
The c.-5_-4delCC variant is located in the 5' untranslated region (5’UTR) of the LPL gene. This variant results from a deletion of two nucleotides (CC) at positions c.-5 and c.-4, upstream from the first translated codon. These nucleotide positions are not well conserved in available vertebrate species. Based on the available evidence, the clinical significance of this variant remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at