11-116763231-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032725.4(BUD13):c.358C>G(p.Arg120Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 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. R120C) has been classified as Likely benign.
Frequency
Consequence
NM_032725.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BUD13 | NM_032725.4 | c.358C>G | p.Arg120Gly | missense_variant | Exon 4 of 10 | ENST00000260210.5 | NP_116114.1 | |
BUD13 | NM_001159736.2 | c.358C>G | p.Arg120Gly | missense_variant | Exon 4 of 10 | NP_001153208.1 | ||
BUD13 | XM_011543035.3 | c.259C>G | p.Arg87Gly | missense_variant | Exon 4 of 10 | XP_011541337.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BUD13 | ENST00000260210.5 | c.358C>G | p.Arg120Gly | missense_variant | Exon 4 of 10 | 1 | NM_032725.4 | ENSP00000260210.3 | ||
BUD13 | ENST00000375445.7 | c.358C>G | p.Arg120Gly | missense_variant | Exon 4 of 10 | 1 | ENSP00000364594.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 34
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.