9-132499467-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001282957.2(CFAP77):āc.391G>Cā(p.Gly131Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000421 in 1,614,206 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G131S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001282957.2 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 |
---|---|---|---|---|---|---|---|
CFAP77 | NM_001282957.2 | c.391G>C | p.Gly131Arg | missense_variant | 3/6 | ENST00000393216.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CFAP77 | ENST00000393216.3 | c.391G>C | p.Gly131Arg | missense_variant | 3/6 | 1 | NM_001282957.2 | P1 | |
CFAP77 | ENST00000343036.6 | c.499G>C | p.Gly167Arg | missense_variant | 4/7 | 2 | |||
CFAP77 | ENST00000393215.7 | c.391G>C | p.Gly131Arg | missense_variant | 3/4 | 5 |
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000191 AC: 48AN: 251428Hom.: 0 AF XY: 0.000206 AC XY: 28AN XY: 135904
GnomAD4 exome AF: 0.0000335 AC: 49AN: 1461882Hom.: 0 Cov.: 32 AF XY: 0.0000371 AC XY: 27AN XY: 727244
GnomAD4 genome AF: 0.000125 AC: 19AN: 152324Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74482
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at