6-1610464-G-GT
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PVS1PM2PP5_Moderate
The NM_001453.3(FOXC1):c.20dupT(p.Ser8ValfsTer75) variant causes a frameshift change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (★).
Frequency
Consequence
NM_001453.3 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FOXC1 | NM_001453.3 | c.20dupT | p.Ser8ValfsTer75 | frameshift_variant | Exon 1 of 1 | ENST00000645831.2 | NP_001444.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not provided Pathogenic:1
The c.20dupT variant in the FOXC1 gene causes a frameshift starting with codon Serine 8, changes this amino acid to a Valine residue and creates a premature Stop codon at position 75 of the new reading frame, denoted p.Ser8ValfsX75. This variant is predicted to cause loss of normal protein function through protein truncation. Specifically, it is predicted that the last 546 correct amino acids are lost and replaced by 74 incorrect amino acids. The lost residues include the critical Fork-head DNA binding domain. This variant is interpreted to be pathogenic. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at