rs34412175
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_024735.5(FBXO31):āc.1181G>Cā(p.Arg394Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,457,888 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict 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. R394Q) has been classified as Likely benign.
Frequency
Consequence
NM_024735.5 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 |
---|---|---|---|---|---|---|---|
FBXO31 | NM_024735.5 | c.1181G>C | p.Arg394Pro | missense_variant | 8/9 | ENST00000311635.12 | |
FBXO31 | NM_001282683.2 | c.665G>C | p.Arg222Pro | missense_variant | 9/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FBXO31 | ENST00000311635.12 | c.1181G>C | p.Arg394Pro | missense_variant | 8/9 | 1 | NM_024735.5 | P1 | |
FBXO31 | ENST00000636077.2 | c.1268G>C | p.Arg423Pro | missense_variant | 9/10 | 5 | |||
FBXO31 | ENST00000618298.6 | c.665G>C | p.Arg222Pro | missense_variant | 8/9 | 5 | |||
FBXO31 | ENST00000565593.1 | c.307G>C | p.Gly103Arg | missense_variant, NMD_transcript_variant | 2/3 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD3 exomes AF: 0.00000418 AC: 1AN: 239092Hom.: 0 AF XY: 0.00000763 AC XY: 1AN XY: 131002
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457888Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 724950
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at