chr6-1611782-ACGGCGGCGGCGGCGG-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001453.3(FOXC1):c.1347_1361delCGGCGGCGGCGGCGG(p.Gly450_Gly454del) variant causes a disruptive inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000771 in 1,297,672 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001453.3 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FOXC1 | NM_001453.3 | c.1347_1361delCGGCGGCGGCGGCGG | p.Gly450_Gly454del | disruptive_inframe_deletion | Exon 1 of 1 | ENST00000645831.2 | NP_001444.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 19
GnomAD4 exome AF: 7.71e-7 AC: 1AN: 1297672Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 639922
GnomAD4 genome Cov.: 19
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.