rs771687051
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_205836.3(FBXO38):c.2202C>G(p.Gly734=) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G734G) has been classified as Likely benign.
Frequency
Consequence
NM_205836.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FBXO38 | NM_205836.3 | c.2202C>G | p.Gly734= | synonymous_variant | 15/22 | ENST00000340253.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FBXO38 | ENST00000340253.10 | c.2202C>G | p.Gly734= | synonymous_variant | 15/22 | 5 | NM_205836.3 | P3 | |
FBXO38 | ENST00000394370.7 | c.2202C>G | p.Gly734= | synonymous_variant | 15/22 | 1 | A1 | ||
FBXO38 | ENST00000513826.1 | c.1918+1795C>G | intron_variant | 1 | A1 | ||||
FBXO38 | ENST00000296701.10 | c.1918+1795C>G | intron_variant | 2 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
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.