chr19-45470917-C-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_006732.3(FOSB):āc.415C>Gā(p.Arg139Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,613,002 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 (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R139Q) 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.415C>G | p.Arg139Gly | missense_variant | 2/4 | ENST00000353609.8 | |
FOSB | NM_001114171.2 | c.415C>G | p.Arg139Gly | missense_variant | 2/3 | ||
FOSB | NM_001411069.1 | c.415C>G | p.Arg139Gly | missense_variant | 2/5 | ||
FOSB | XM_047438550.1 | c.415C>G | p.Arg139Gly | missense_variant | 2/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOSB | ENST00000353609.8 | c.415C>G | p.Arg139Gly | missense_variant | 2/4 | 1 | NM_006732.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152060Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000806 AC: 2AN: 247988Hom.: 0 AF XY: 0.00000743 AC XY: 1AN XY: 134576
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1460942Hom.: 0 Cov.: 31 AF XY: 0.0000179 AC XY: 13AN XY: 726802
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152060Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74260
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 04, 2022 | The c.415C>G (p.R139G) alteration is located in exon 2 (coding exon 2) of the FOSB gene. This alteration results from a C to G substitution at nucleotide position 415, causing the arginine (R) at amino acid position 139 to be replaced by a glycine (G). 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