rs1058885
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000757.6(CSF1):c.1223T>A(p.Leu408Gln) 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. 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. L408P) has been classified as Likely benign.
Frequency
Consequence
NM_000757.6 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CSF1 | NM_000757.6 | c.1223T>A | p.Leu408Gln | missense_variant | 6/9 | ENST00000329608.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CSF1 | ENST00000329608.11 | c.1223T>A | p.Leu408Gln | missense_variant | 6/9 | 1 | NM_000757.6 | P4 | |
CSF1 | ENST00000369802.7 | c.1223T>A | p.Leu408Gln | missense_variant | 6/9 | 1 | P4 | ||
CSF1 | ENST00000369801.1 | c.1090+133T>A | intron_variant | 1 | |||||
CSF1 | ENST00000420111.6 | c.545-216T>A | intron_variant | 5 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 78
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at