1-16250966-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018994.3(FBXO42):c.1858C>T(p.Arg620Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000991 in 1,614,072 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R620H) has been classified as Uncertain significance.
Frequency
Consequence
NM_018994.3 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 |
---|---|---|---|---|---|---|---|
FBXO42 | NM_018994.3 | c.1858C>T | p.Arg620Cys | missense_variant | 10/10 | ENST00000375592.8 | |
FBXO42 | XM_047422747.1 | c.1858C>T | p.Arg620Cys | missense_variant | 12/12 | ||
FBXO42 | XM_047422750.1 | c.1858C>T | p.Arg620Cys | missense_variant | 12/12 | ||
FBXO42 | XM_047422751.1 | c.1858C>T | p.Arg620Cys | missense_variant | 12/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FBXO42 | ENST00000375592.8 | c.1858C>T | p.Arg620Cys | missense_variant | 10/10 | 1 | NM_018994.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251376Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135854
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461890Hom.: 0 Cov.: 30 AF XY: 0.00000688 AC XY: 5AN XY: 727248
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74334
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at