19-44909080-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBS1_Supporting
The NM_000041.4(APOE):c.784G>A(p.Glu262Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000156 in 1,580,482 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as no classification for the single variant (no stars). Synonymous variant affecting the same amino acid position (i.e. E262E) has been classified as Likely benign.
Frequency
Consequence
NM_000041.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
APOE | NM_000041.4 | c.784G>A | p.Glu262Lys | missense_variant | 4/4 | ENST00000252486.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APOE | ENST00000252486.9 | c.784G>A | p.Glu262Lys | missense_variant | 4/4 | 1 | NM_000041.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000205 AC: 39AN: 190334Hom.: 0 AF XY: 0.000209 AC XY: 22AN XY: 105030
GnomAD4 exome AF: 0.000160 AC: 229AN: 1428184Hom.: 0 Cov.: 33 AF XY: 0.000171 AC XY: 121AN XY: 708976
GnomAD4 genome AF: 0.000118 AC: 18AN: 152298Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74468
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at