22-32493269-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 6P and 4B. PM1PM2PP3_ModerateBS1
The NM_012179.4(FBXO7):c.1132C>T(p.Arg378Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000812 in 1,613,590 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_012179.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBXO7 | NM_012179.4 | c.1132C>T | p.Arg378Cys | missense_variant | Exon 7 of 9 | ENST00000266087.12 | NP_036311.3 | |
FBXO7 | NM_001033024.2 | c.895C>T | p.Arg299Cys | missense_variant | Exon 7 of 9 | NP_001028196.1 | ||
FBXO7 | NM_001257990.2 | c.790C>T | p.Arg264Cys | missense_variant | Exon 7 of 9 | NP_001244919.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152116Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000477 AC: 12AN: 251388Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135868
GnomAD4 exome AF: 0.0000828 AC: 121AN: 1461474Hom.: 0 Cov.: 30 AF XY: 0.0000866 AC XY: 63AN XY: 727074
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152116Hom.: 0 Cov.: 33 AF XY: 0.0000673 AC XY: 5AN XY: 74292
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at