chr12-113151939-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001144872.3(CFAP73):āc.78G>Cā(p.Glu26Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000357 in 1,399,254 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict 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. E26G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001144872.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CFAP73 | NM_001144872.3 | c.78G>C | p.Glu26Asp | missense_variant | 2/8 | ENST00000335621.11 | |
CFAP73 | XM_011538327.3 | c.78G>C | p.Glu26Asp | missense_variant | 2/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CFAP73 | ENST00000335621.11 | c.78G>C | p.Glu26Asp | missense_variant | 2/8 | 5 | NM_001144872.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000357 AC: 5AN: 1399254Hom.: 0 Cov.: 30 AF XY: 0.00000290 AC XY: 2AN XY: 690142
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at