chr6-1610483-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001453.3(FOXC1):āc.38T>Gā(p.Leu13Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000268 in 1,493,636 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L13V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001453.3 missense
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOXC1 | NM_001453.3 | c.38T>G | p.Leu13Arg | missense_variant | 1/1 | ENST00000645831.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOXC1 | ENST00000645831.2 | c.38T>G | p.Leu13Arg | missense_variant | 1/1 | NM_001453.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000662 AC: 1AN: 151086Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000223 AC: 3AN: 1342550Hom.: 0 Cov.: 31 AF XY: 0.00000152 AC XY: 1AN XY: 658702
GnomAD4 genome AF: 0.00000662 AC: 1AN: 151086Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73770
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, no assertion criteria provided | research | Gharavi Laboratory, Columbia University | Sep 16, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at