chr6-1390041-C-CCCG
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP6BA1
The NM_001452.2(FOXF2):c.121_123dupGCC(p.Ala41dup) variant causes a conservative inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0176 in 1,354,102 control chromosomes in the GnomAD database, including 155 homozygotes. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001452.2 conservative_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FOXF2 | NM_001452.2 | c.121_123dupGCC | p.Ala41dup | conservative_inframe_insertion | Exon 1 of 2 | ENST00000645481.2 | NP_001443.1 | |
FOXF2-DT | NR_189293.1 | n.458+38_458+40dupCGG | intron_variant | Intron 1 of 2 | ||||
FOXF2-DT | NR_189294.1 | n.69-818_69-816dupCGG | intron_variant | Intron 1 of 2 | ||||
FOXF2-DT | NR_189295.1 | n.68+948_68+950dupCGG | intron_variant | Intron 1 of 1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0197 AC: 2865AN: 145186Hom.: 39 Cov.: 31
GnomAD3 exomes AF: 0.0318 AC: 1084AN: 34036Hom.: 1 AF XY: 0.0310 AC XY: 613AN XY: 19760
GnomAD4 exome AF: 0.0174 AC: 21024AN: 1208818Hom.: 116 Cov.: 28 AF XY: 0.0176 AC XY: 10452AN XY: 593484
GnomAD4 genome AF: 0.0197 AC: 2864AN: 145284Hom.: 39 Cov.: 31 AF XY: 0.0206 AC XY: 1459AN XY: 70760
ClinVar
Submissions by phenotype
FOXF2-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at