chr10-132810967-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001200049.3(CFAP46):c.7566G>T(p.Glu2522Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001200049.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CFAP46 | NM_001200049.3 | c.7566G>T | p.Glu2522Asp | missense_variant | 56/58 | ENST00000368586.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CFAP46 | ENST00000368586.10 | c.7566G>T | p.Glu2522Asp | missense_variant | 56/58 | 5 | NM_001200049.3 | A2 | |
CFAP46 | ENST00000639072.2 | c.7566G>T | p.Glu2522Asp | missense_variant | 56/59 | 5 | P3 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1452968Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 721970
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.