chr10-132808498-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001200049.3(CFAP46):c.8071G>A(p.Gly2691Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000151 in 1,613,224 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. 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CFAP46 | NM_001200049.3 | c.8071G>A | p.Gly2691Ser | missense_variant | 58/58 | ENST00000368586.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CFAP46 | ENST00000368586.10 | c.8071G>A | p.Gly2691Ser | missense_variant | 58/58 | 5 | NM_001200049.3 | A2 | |
CFAP46 | ENST00000639072.2 | c.*294G>A | 3_prime_UTR_variant | 59/59 | 5 | P3 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000153 AC: 38AN: 248568Hom.: 0 AF XY: 0.000171 AC XY: 23AN XY: 134710
GnomAD4 exome AF: 0.000156 AC: 228AN: 1460896Hom.: 0 Cov.: 31 AF XY: 0.000166 AC XY: 121AN XY: 726746
GnomAD4 genome AF: 0.000105 AC: 16AN: 152328Hom.: 0 Cov.: 32 AF XY: 0.000107 AC XY: 8AN XY: 74480
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at