rs10521916
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_024122.5(APOO):c.237+1578C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0332 in 112,184 control chromosomes in the GnomAD database, including 63 homozygotes. There are 1,075 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_024122.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
APOO | NM_024122.5 | c.237+1578C>T | intron_variant | ENST00000379226.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APOO | ENST00000379226.9 | c.237+1578C>T | intron_variant | 1 | NM_024122.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0332 AC: 3722AN: 112131Hom.: 63 Cov.: 23 AF XY: 0.0313 AC XY: 1074AN XY: 34331
GnomAD4 genome ? AF: 0.0332 AC: 3722AN: 112184Hom.: 63 Cov.: 23 AF XY: 0.0313 AC XY: 1075AN XY: 34394
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at