2-130598681-G-GCCCCCAGCCCTC
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_032545.4(CFC1):c.196_207dupGAGGGCTGGGGG(p.Gly69_Pro70insGluGlyTrpGly) variant causes a conservative inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000131 in 152,220 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032545.4 conservative_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CFC1 | NM_032545.4 | c.196_207dupGAGGGCTGGGGG | p.Gly69_Pro70insGluGlyTrpGly | conservative_inframe_insertion | Exon 3 of 6 | ENST00000259216.6 | NP_115934.1 | |
CFC1 | NM_001270420.2 | c.196_207dupGAGGGCTGGGGG | p.Gly69_Pro70insGluGlyTrpGly | conservative_inframe_insertion | Exon 3 of 5 | NP_001257349.1 | ||
CFC1 | NM_001270421.2 | c.196_207dupGAGGGCTGGGGG | p.Gly69_Pro70insGluGlyTrpGly | conservative_inframe_insertion | Exon 3 of 4 | NP_001257350.1 | ||
CFC1 | XM_011511486.4 | c.196_207dupGAGGGCTGGGGG | p.Gly69_Pro70insGluGlyTrpGly | conservative_inframe_insertion | Exon 3 of 4 | XP_011509788.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CFC1 | ENST00000259216.6 | c.196_207dupGAGGGCTGGGGG | p.Gly69_Pro70insGluGlyTrpGly | conservative_inframe_insertion | Exon 3 of 6 | 1 | NM_032545.4 | ENSP00000259216.5 | ||
CFC1 | ENST00000615342.4 | c.196_207dupGAGGGCTGGGGG | p.Gly69_Pro70insGluGlyTrpGly | conservative_inframe_insertion | Exon 3 of 5 | 5 | ENSP00000480526.1 | |||
CFC1 | ENST00000621673.4 | c.196_207dupGAGGGCTGGGGG | p.Gly69_Pro70insGluGlyTrpGly | conservative_inframe_insertion | Exon 3 of 4 | 2 | ENSP00000480843.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152220Hom.: 0 Cov.: 22
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000479 AC: 7AN: 1461626Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 727126
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152220Hom.: 0 Cov.: 22 AF XY: 0.0000134 AC XY: 1AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
Variant summary: CFC1 c.196_207dup12 (p.Glu66_Gly69dup) results in an in-frame duplication that is predicted to duplicate 4 amino acids into the encoded protein. The variant was absent in 247428 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.196_207dup12 in individuals affected with Heterotaxy, Visceral, 2, Autosomal and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have provided clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at