19-45472932-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_006732.3(FOSB):c.937G>A(p.Ala313Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000403 in 1,613,806 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict 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 Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOSB | NM_006732.3 | c.937G>A | p.Ala313Thr | missense_variant | 4/4 | ENST00000353609.8 | |
FOSB | NM_001114171.2 | c.829G>A | p.Ala277Thr | missense_variant | 3/3 | ||
FOSB | NM_001411069.1 | c.*83G>A | 3_prime_UTR_variant | 5/5 | |||
FOSB | XM_047438550.1 | c.*83G>A | 3_prime_UTR_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOSB | ENST00000353609.8 | c.937G>A | p.Ala313Thr | missense_variant | 4/4 | 1 | NM_006732.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251180Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135808
GnomAD4 exome AF: 0.0000369 AC: 54AN: 1461514Hom.: 1 Cov.: 32 AF XY: 0.0000385 AC XY: 28AN XY: 727102
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152292Hom.: 1 Cov.: 32 AF XY: 0.000107 AC XY: 8AN XY: 74480
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at