rs58230522
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001452.2(FOXF2):c.914_919del(p.Gly305_Gly306del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000353 in 1,418,230 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
Genomes: 𝑓 0.0000066 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0000032 ( 0 hom. )
Consequence
FOXF2
NM_001452.2 inframe_deletion
NM_001452.2 inframe_deletion
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 2.78
Genes affected
FOXF2 (HGNC:3810): (forkhead box F2) FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FOXF2 | NM_001452.2 | c.914_919del | p.Gly305_Gly306del | inframe_deletion | 1/2 | ENST00000645481.2 | NP_001443.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FOXF2 | ENST00000645481.2 | c.914_919del | p.Gly305_Gly306del | inframe_deletion | 1/2 | NM_001452.2 | ENSP00000496415 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000661 AC: 1AN: 151336Hom.: 0 Cov.: 0
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GnomAD4 exome AF: 0.00000316 AC: 4AN: 1266894Hom.: 0 AF XY: 0.00000323 AC XY: 2AN XY: 618672
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GnomAD4 genome AF: 0.00000661 AC: 1AN: 151336Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 73922
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at