10-89213735-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000235.4(LIPA):c.*1093C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.11 in 152,176 control chromosomes in the GnomAD database, including 1,130 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000235.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LIPA | NM_000235.4 | c.*1093C>T | 3_prime_UTR_variant | Exon 10 of 10 | ENST00000336233.10 | NP_000226.2 | ||
LIPA | NM_001127605.3 | c.*1093C>T | 3_prime_UTR_variant | Exon 10 of 10 | NP_001121077.1 | |||
LIPA | NM_001288979.2 | c.*1093C>T | 3_prime_UTR_variant | Exon 8 of 8 | NP_001275908.1 | |||
LIPA | XM_024448023.2 | c.*1093C>T | 3_prime_UTR_variant | Exon 10 of 10 | XP_024303791.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LIPA | ENST00000336233 | c.*1093C>T | 3_prime_UTR_variant | Exon 10 of 10 | 1 | NM_000235.4 | ENSP00000337354.5 | |||
LIPA | ENST00000371837 | c.*1093C>T | 3_prime_UTR_variant | Exon 9 of 9 | 2 | ENSP00000360903.1 | ||||
LIPA | ENST00000456827 | c.*1093C>T | 3_prime_UTR_variant | Exon 8 of 8 | 3 | ENSP00000413019.2 |
Frequencies
GnomAD3 genomes AF: 0.110 AC: 16788AN: 152058Hom.: 1128 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 10Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 8
GnomAD4 genome AF: 0.110 AC: 16803AN: 152176Hom.: 1130 Cov.: 32 AF XY: 0.107 AC XY: 7926AN XY: 74414
ClinVar
Submissions by phenotype
not provided Benign:2
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Wolman disease Benign:1
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Lysosomal acid lipase deficiency Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at