12-113155366-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001144872.3(CFAP73):āc.797A>Gā(p.Gln266Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000143 in 1,399,188 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001144872.3 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 |
---|---|---|---|---|---|---|---|
CFAP73 | NM_001144872.3 | c.797A>G | p.Gln266Arg | missense_variant | 6/8 | ENST00000335621.11 | |
CFAP73 | XM_011538327.3 | c.797A>G | p.Gln266Arg | missense_variant | 6/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CFAP73 | ENST00000335621.11 | c.797A>G | p.Gln266Arg | missense_variant | 6/8 | 5 | NM_001144872.3 | P1 | |
CFAP73 | ENST00000550918.1 | c.287A>G | p.Gln96Arg | missense_variant | 2/3 | 3 | |||
CFAP73 | ENST00000551256.1 | n.742A>G | non_coding_transcript_exon_variant | 3/5 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000639 AC: 1AN: 156586Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 82962
GnomAD4 exome AF: 0.00000143 AC: 2AN: 1399188Hom.: 0 Cov.: 31 AF XY: 0.00000145 AC XY: 1AN XY: 690082
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at