chr11-116832955-G-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000040.3(APOC3):c.*71G>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 0.566 in 1,606,286 control chromosomes in the GnomAD database, including 274,952 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000040.3 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
APOC3 | ENST00000227667.8 | c.*71G>T | 3_prime_UTR_variant | Exon 4 of 4 | 1 | NM_000040.3 | ENSP00000227667.2 | |||
APOC3 | ENST00000630701.1 | c.*71G>T | 3_prime_UTR_variant | Exon 3 of 3 | 1 | ENSP00000486182.1 | ||||
APOC3 | ENST00000375345.3 | c.*71G>T | 3_prime_UTR_variant | Exon 4 of 4 | 5 | ENSP00000364494.1 |
Frequencies
GnomAD3 genomes AF: 0.449 AC: 68199AN: 151968Hom.: 18618 Cov.: 33
GnomAD4 exome AF: 0.579 AC: 841593AN: 1454200Hom.: 256337 Cov.: 30 AF XY: 0.572 AC XY: 414102AN XY: 723704
GnomAD4 genome AF: 0.448 AC: 68184AN: 152086Hom.: 18615 Cov.: 33 AF XY: 0.440 AC XY: 32704AN XY: 74326
ClinVar
Submissions by phenotype
not specified Benign:2
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not provided Benign:2
This variant is associated with the following publications: (PMID: 30420299, 30782561, 27624799) -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at