6-1610481-C-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001453.3(FOXC1):āc.36C>Gā(p.Ser12Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001453.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FOXC1 | NM_001453.3 | c.36C>G | p.Ser12Ser | synonymous_variant | Exon 1 of 1 | ENST00000645831.2 | NP_001444.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 7.45e-7 AC: 1AN: 1341476Hom.: 0 Cov.: 31 AF XY: 0.00000152 AC XY: 1AN XY: 658018
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
Axenfeld-Rieger syndrome type 3 Uncertain:1
This variant has not been reported in the literature in individuals affected with FOXC1-related conditions. This sequence change affects codon 12 of the FOXC1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FOXC1 protein. This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.