rs5880
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000078.3(CETP):c.1168G>A(p.Ala390Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A390P) has been classified as Benign.
Frequency
Consequence
NM_000078.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CETP | NM_000078.3 | c.1168G>A | p.Ala390Thr | missense_variant | 12/16 | ENST00000200676.8 | |
CETP | NM_001286085.2 | c.988G>A | p.Ala330Thr | missense_variant | 11/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CETP | ENST00000200676.8 | c.1168G>A | p.Ala390Thr | missense_variant | 12/16 | 1 | NM_000078.3 | P1 | |
CETP | ENST00000379780.6 | c.988G>A | p.Ala330Thr | missense_variant | 11/15 | 1 | |||
CETP | ENST00000566128.1 | c.973G>A | p.Ala325Thr | missense_variant | 12/16 | 5 | |||
CETP | ENST00000650358.1 | n.1566G>A | non_coding_transcript_exon_variant | 2/5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at