11-65892906-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PP3_ModerateBS2
The NM_005438.5(FOSL1):c.796C>G(p.Pro266Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000695 in 1,611,702 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 (★).
Frequency
Consequence
NM_005438.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FOSL1 | NM_005438.5 | c.796C>G | p.Pro266Ala | missense_variant | Exon 4 of 4 | ENST00000312562.7 | NP_005429.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 249258Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134590
GnomAD4 exome AF: 0.0000719 AC: 105AN: 1459514Hom.: 0 Cov.: 32 AF XY: 0.0000730 AC XY: 53AN XY: 726000
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152188Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.796C>G (p.P266A) alteration is located in exon 4 (coding exon 4) of the FOSL1 gene. This alteration results from a C to G substitution at nucleotide position 796, causing the proline (P) at amino acid position 266 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at