rs34065661
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_000078.3(CETP):c.44C>A(p.Ala15Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000223 in 1,613,970 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 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. A15G) has been classified as Benign.
Frequency
Consequence
NM_000078.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CETP | NM_000078.3 | c.44C>A | p.Ala15Asp | missense_variant | 1/16 | ENST00000200676.8 | |
CETP | NM_001286085.2 | c.44C>A | p.Ala15Asp | missense_variant | 1/15 | ||
CETP | XM_006721124.4 | c.44C>A | p.Ala15Asp | missense_variant | 1/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CETP | ENST00000200676.8 | c.44C>A | p.Ala15Asp | missense_variant | 1/16 | 1 | NM_000078.3 | P1 | |
CETP | ENST00000379780.6 | c.44C>A | p.Ala15Asp | missense_variant | 1/15 | 1 | |||
CETP | ENST00000569082.1 | n.42C>A | non_coding_transcript_exon_variant | 1/9 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251122Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135802
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461758Hom.: 0 Cov.: 31 AF XY: 0.0000248 AC XY: 18AN XY: 727192
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152212Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74368
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at