chr19-44908751-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM1PP5
The NM_000041.4(APOE):c.455G>A(p.Arg152Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000115 in 1,560,456 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Pathogenic (no stars). Synonymous variant affecting the same amino acid position (i.e. R152R) has been classified as Likely benign.
Frequency
Consequence
NM_000041.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
APOE | NM_000041.4 | c.455G>A | p.Arg152Gln | missense_variant | 4/4 | ENST00000252486.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APOE | ENST00000252486.9 | c.455G>A | p.Arg152Gln | missense_variant | 4/4 | 1 | NM_000041.4 | P1 | |
APOE | ENST00000425718.1 | c.455G>A | p.Arg152Gln | missense_variant | 3/3 | 1 | |||
APOE | ENST00000434152.5 | c.533G>A | p.Arg178Gln | missense_variant | 4/4 | 2 | |||
APOE | ENST00000446996.5 | c.455G>A | p.Arg152Gln | missense_variant | 4/4 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152102Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000317 AC: 5AN: 157748Hom.: 0 AF XY: 0.0000232 AC XY: 2AN XY: 86264
GnomAD4 exome AF: 0.00000923 AC: 13AN: 1408354Hom.: 0 Cov.: 33 AF XY: 0.00000862 AC XY: 6AN XY: 696082
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152102Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74306
ClinVar
Submissions by phenotype
APOE2 VARIANT Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 01, 1991 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at