19-45470918-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_006732.3(FOSB):c.416G>A(p.Arg139Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000254 in 1,613,042 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R139G) has been classified as Uncertain significance.
Frequency
Consequence
NM_006732.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOSB | NM_006732.3 | c.416G>A | p.Arg139Gln | missense_variant | 2/4 | ENST00000353609.8 | |
FOSB | NM_001114171.2 | c.416G>A | p.Arg139Gln | missense_variant | 2/3 | ||
FOSB | NM_001411069.1 | c.416G>A | p.Arg139Gln | missense_variant | 2/5 | ||
FOSB | XM_047438550.1 | c.416G>A | p.Arg139Gln | missense_variant | 2/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOSB | ENST00000353609.8 | c.416G>A | p.Arg139Gln | missense_variant | 2/4 | 1 | NM_006732.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152110Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 248022Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134582
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1460932Hom.: 0 Cov.: 31 AF XY: 0.0000303 AC XY: 22AN XY: 726804
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152110Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74306
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 18, 2022 | The c.416G>A (p.R139Q) alteration is located in exon 2 (coding exon 2) of the FOSB gene. This alteration results from a G to A substitution at nucleotide position 416, causing the arginine (R) at amino acid position 139 to be replaced by a glutamine (Q). 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