rs9373475
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032145.5(FBXO30):c.1123G>T(p.Val375Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,732 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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. V375M) has been classified as Likely benign.
Frequency
Consequence
NM_032145.5 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 |
---|---|---|---|---|---|---|---|
FBXO30 | NM_032145.5 | c.1123G>T | p.Val375Leu | missense_variant | 2/3 | ENST00000237281.5 | |
EPM2A-DT | NR_038246.1 | n.53-23078C>A | intron_variant, non_coding_transcript_variant | ||||
FBXO30 | NM_001348092.2 | c.1123G>T | p.Val375Leu | missense_variant | 2/3 | ||
FBXO30 | XM_047419398.1 | c.1231G>T | p.Val411Leu | missense_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FBXO30 | ENST00000237281.5 | c.1123G>T | p.Val375Leu | missense_variant | 2/3 | 1 | NM_032145.5 | P1 | |
EPM2A-DT | ENST00000629681.1 | n.91-4495C>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461732Hom.: 0 Cov.: 58 AF XY: 0.00 AC XY: 0AN XY: 727164
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at