rs1555532483
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM2PM5PP3_StrongPP5
The NM_001212.4(C1QBP):c.824T>C(p.Leu275Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L275F) has been classified as Pathogenic.
Frequency
Consequence
NM_001212.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
C1QBP | NM_001212.4 | c.824T>C | p.Leu275Pro | missense_variant | 6/6 | ENST00000225698.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
C1QBP | ENST00000225698.8 | c.824T>C | p.Leu275Pro | missense_variant | 6/6 | 1 | NM_001212.4 | P1 | |
C1QBP | ENST00000574444.5 | c.512T>C | p.Leu171Pro | missense_variant | 6/6 | 3 | |||
C1QBP | ENST00000570805.1 | c.512T>C | p.Leu171Pro | missense_variant | 6/6 | 3 | |||
C1QBP | ENST00000573204.1 | downstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Combined oxidative phosphorylation deficiency 33 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 16, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at