rs143311144
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018994.3(FBXO42):c.1651G>T(p.Val551Phe) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,846 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V551I) 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBXO42 | NM_018994.3 | c.1651G>T | p.Val551Phe | missense_variant | Exon 10 of 10 | ENST00000375592.8 | NP_061867.1 | |
FBXO42 | XM_047422747.1 | c.1651G>T | p.Val551Phe | missense_variant | Exon 12 of 12 | XP_047278703.1 | ||
FBXO42 | XM_047422750.1 | c.1651G>T | p.Val551Phe | missense_variant | Exon 12 of 12 | XP_047278706.1 | ||
FBXO42 | XM_047422751.1 | c.1651G>T | p.Val551Phe | missense_variant | Exon 12 of 12 | XP_047278707.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBXO42 | ENST00000375592.8 | c.1651G>T | p.Val551Phe | missense_variant | Exon 10 of 10 | 1 | NM_018994.3 | ENSP00000364742.3 | ||
FBXO42 | ENST00000444116.1 | c.805G>T | p.Val269Phe | missense_variant | Exon 4 of 4 | 5 | ENSP00000412416.1 | |||
FBXO42 | ENST00000456164.5 | c.805G>T | p.Val269Phe | missense_variant | Exon 3 of 3 | 2 | ENSP00000415663.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461846Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727214
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.