2-21044060-G-C
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_000384.3(APOB):c.-115C>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0127 in 425,854 control chromosomes in the GnomAD database, including 62 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_000384.3 5_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0177 AC: 2699AN: 152134Hom.: 34 Cov.: 32
GnomAD4 exome AF: 0.00988 AC: 2703AN: 273604Hom.: 27 Cov.: 5 AF XY: 0.00932 AC XY: 1290AN XY: 138474
GnomAD4 genome AF: 0.0177 AC: 2699AN: 152250Hom.: 35 Cov.: 32 AF XY: 0.0164 AC XY: 1223AN XY: 74452
ClinVar
Submissions by phenotype
Hypercholesterolemia, familial, 1 Uncertain:1
- -
Hypercholesterolemia, autosomal dominant, type B Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
Familial hypercholesterolemia Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at