chr11-116837121-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3PP5
The NM_000039.3(APOA1):c.80C>G(p.Pro27Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,461,146 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P27H) has been classified as Uncertain significance.
Frequency
Consequence
NM_000039.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
APOA1 | NM_000039.3 | c.80C>G | p.Pro27Arg | missense_variant | 3/4 | ENST00000236850.5 | |
APOA1-AS | NR_126362.1 | n.123+882G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APOA1 | ENST00000236850.5 | c.80C>G | p.Pro27Arg | missense_variant | 3/4 | 1 | NM_000039.3 | P1 | |
APOA1-AS | ENST00000669664.1 | n.74+882G>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461146Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 726764
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
APOLIPOPROTEIN A-I (MUNSTER3C) Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Dec 01, 1989 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at