19-45472704-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_006732.3(FOSB):c.709G>A(p.Glu237Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000876 in 1,609,066 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 (★).
Frequency
Consequence
NM_006732.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FOSB | NM_006732.3 | c.709G>A | p.Glu237Lys | missense_variant | Exon 4 of 4 | ENST00000353609.8 | NP_006723.2 | |
FOSB | NM_001114171.2 | c.601G>A | p.Glu201Lys | missense_variant | Exon 3 of 3 | NP_001107643.1 | ||
FOSB | NM_001411069.1 | c.709G>A | p.Glu237Lys | missense_variant, splice_region_variant | Exon 4 of 5 | NP_001397998.1 | ||
FOSB | XM_047438550.1 | c.601G>A | p.Glu201Lys | missense_variant, splice_region_variant | Exon 3 of 4 | XP_047294506.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152208Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000163 AC: 40AN: 245320Hom.: 0 AF XY: 0.000173 AC XY: 23AN XY: 133242
GnomAD4 exome AF: 0.0000892 AC: 130AN: 1456858Hom.: 0 Cov.: 32 AF XY: 0.0000911 AC XY: 66AN XY: 724486
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152208Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.709G>A (p.E237K) alteration is located in exon 4 (coding exon 4) of the FOSB gene. This alteration results from a G to A substitution at nucleotide position 709, causing the glutamic acid (E) at amino acid position 237 to be replaced by a lysine (K). 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