19-45471287-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_006732.3(FOSB):c.541G>C(p.Asp181His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic 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. D181N) has been classified as Uncertain significance.
Frequency
Consequence
NM_006732.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOSB | NM_006732.3 | c.541G>C | p.Asp181His | missense_variant | 3/4 | ENST00000353609.8 | |
FOSB | NM_001411069.1 | c.541G>C | p.Asp181His | missense_variant | 3/5 | ||
FOSB | NM_001114171.2 | c.447+338G>C | intron_variant | ||||
FOSB | XM_047438550.1 | c.447+338G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOSB | ENST00000353609.8 | c.541G>C | p.Asp181His | missense_variant | 3/4 | 1 | NM_006732.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 31, 2024 | The c.541G>C (p.D181H) alteration is located in exon 3 (coding exon 3) of the FOSB gene. This alteration results from a G to C substitution at nucleotide position 541, causing the aspartic acid (D) at amino acid position 181 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
Publications
No publications associated with this variant yet.