11-65893019-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_005438.5(FOSL1):c.683C>A(p.Pro228His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000496 in 1,612,294 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
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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 |
---|---|---|---|---|---|---|---|---|
FOSL1 | NM_005438.5 | c.683C>A | p.Pro228His | missense_variant | Exon 4 of 4 | ENST00000312562.7 | NP_005429.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152126Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 249852Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134998
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460168Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726358
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152126Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.683C>A (p.P228H) alteration is located in exon 4 (coding exon 4) of the FOSL1 gene. This alteration results from a C to A substitution at nucleotide position 683, causing the proline (P) at amino acid position 228 to be replaced by a histidine (H). 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