1-109923716-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000369801.1(CSF1):c.1090+5C>T variant causes a splice donor 5th base, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,554 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000369801.1 splice_donor_5th_base, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CSF1 | NM_000757.6 | c.1095C>T | p.Thr365= | synonymous_variant | 6/9 | ENST00000329608.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CSF1 | ENST00000329608.11 | c.1095C>T | p.Thr365= | synonymous_variant | 6/9 | 1 | NM_000757.6 | P4 | |
CSF1 | ENST00000369802.7 | c.1095C>T | p.Thr365= | synonymous_variant | 6/9 | 1 | P4 | ||
CSF1 | ENST00000369801.1 | c.1090+5C>T | splice_donor_5th_base_variant, intron_variant | 1 | |||||
CSF1 | ENST00000420111.6 | c.545-344C>T | intron_variant | 5 | A1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250112Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135144
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460554Hom.: 0 Cov.: 73 AF XY: 0.00 AC XY: 0AN XY: 726432
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at