rs752504125
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 3P and 5B. PM5PP5BP4BS2
The NM_001451.3(FOXF1):c.658G>A(p.Gly220Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000506 in 1,382,696 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in Lovd as Likely pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G220C) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001451.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOXF1 | NM_001451.3 | c.658G>A | p.Gly220Ser | missense_variant | 1/2 | ENST00000262426.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOXF1 | ENST00000262426.6 | c.658G>A | p.Gly220Ser | missense_variant | 1/2 | 1 | NM_001451.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000765 AC: 1AN: 130672Hom.: 0 AF XY: 0.0000140 AC XY: 1AN XY: 71666
GnomAD4 exome AF: 0.00000506 AC: 7AN: 1382696Hom.: 0 Cov.: 34 AF XY: 0.00000586 AC XY: 4AN XY: 682494
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at