chr5-75379360-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001379029.1(CERT1):c.1861C>T(p.Pro621Ser) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001379029.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CERT1 | NM_001379029.1 | c.1861C>T | p.Pro621Ser | missense_variant | Exon 17 of 17 | ENST00000643780.2 | NP_001365958.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The alteration results in an amino acid change:_x000D_ _x000D_ The c.2245C>T (p.P749S) alteration is located in coding exon 18 of the CERT1 gene. This alteration results from a C to T substitution at nucleotide position 2245, causing the proline (P) at amino acid position 749 to be replaced by a serine (S). The alteration is not observed in population databases:_x000D_ _x000D_ Based on data from the Genome Aggregation Database (gnomAD), the COL4A3BP c.2245C>T alteration was not observed, with coverage at this position. The altered amino acid is conserved throughout evolution:_x000D_ _x000D_ The p.P749 amino acid is conserved in available vertebrate species; however, serine (S) is the reference amino acid in a few species. The alteration is predicted tolerated by in silico modeling:_x000D_ _x000D_ The p.P749S alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.