chr22-50464722-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_002972.4(SBF1):c.1448C>G(p.Ala483Gly) 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. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. A483A) has been classified as Likely benign.
Frequency
Consequence
NM_002972.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SBF1 | NM_002972.4 | c.1448C>G | p.Ala483Gly | missense_variant | 14/41 | ENST00000380817.8 | |
SBF1 | NM_001410794.1 | c.1451C>G | p.Ala484Gly | missense_variant | 14/41 | ||
SBF1 | NM_001365819.1 | c.1451C>G | p.Ala484Gly | missense_variant | 14/40 | ||
SBF1 | NM_001410795.1 | c.1448C>G | p.Ala483Gly | missense_variant | 14/40 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SBF1 | ENST00000380817.8 | c.1448C>G | p.Ala483Gly | missense_variant | 14/41 | 1 | NM_002972.4 | P3 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
Charcot-Marie-Tooth disease type 4B3 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genomic Research Center, Shahid Beheshti University of Medical Sciences | Dec 18, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at