rs1801117
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_000395.3(CSF2RB):āc.1278C>Gā(p.Ser426Arg) 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 pathogenic 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. S426S) has been classified as Benign.
Frequency
Consequence
NM_000395.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CSF2RB | NM_000395.3 | c.1278C>G | p.Ser426Arg | missense_variant | 10/14 | ENST00000403662.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CSF2RB | ENST00000403662.8 | c.1278C>G | p.Ser426Arg | missense_variant | 10/14 | 5 | NM_000395.3 | P1 | |
CSF2RB | ENST00000406230.5 | c.1296C>G | p.Ser432Arg | missense_variant | 9/13 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 151888Hom.: 0 Cov.: 31 FAILED QC
GnomAD4 exome Cov.: 38
GnomAD4 genome ? Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 151888Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74174
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at