chr4-109760294-C-A
Variant summary
Our verdict is Likely pathogenic. The variant received 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_000204.5(CFI):c.859G>T(p.Gly287Trp) variant causes a missense change. 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G287R) has been classified as Likely benign.
Frequency
Consequence
NM_000204.5 missense
Scores
Clinical Significance
Conservation
Publications
- atypical hemolytic-uremic syndromeInheritance: AD Classification: DEFINITIVE Submitted by: ClinGen
- atypical hemolytic-uremic syndrome with I factor anomalyInheritance: AD Classification: STRONG, LIMITED Submitted by: Ambry Genetics, Labcorp Genetics (formerly Invitae)
- complement factor I deficiencyInheritance: AR Classification: STRONG, SUPPORTIVE Submitted by: Labcorp Genetics (formerly Invitae), Orphanet
- Doyne honeycomb retinal dystrophyInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- age related macular degeneration 13Inheritance: AD, Unknown Classification: LIMITED Submitted by: Ambry Genetics, Labcorp Genetics (formerly Invitae)
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ACMG classification
Our verdict: Likely_pathogenic. The variant received 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CFI | ENST00000394634.7 | c.859G>T | p.Gly287Trp | missense_variant | Exon 6 of 13 | 1 | NM_000204.5 | ENSP00000378130.2 | ||
ENSG00000285330 | ENST00000645635.1 | c.859G>T | p.Gly287Trp | missense_variant | Exon 6 of 15 | ENSP00000493607.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at