rs12822
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005104.4(BRD2):c.1498G>A(p.Glu500Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000374 in 1,605,792 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005104.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BRD2 | NM_005104.4 | c.1498G>A | p.Glu500Lys | missense_variant | Exon 9 of 13 | ENST00000374825.9 | NP_005095.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000137 AC: 2AN: 145504Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1460288Hom.: 0 Cov.: 58 AF XY: 0.00000275 AC XY: 2AN XY: 726460
GnomAD4 genome AF: 0.0000137 AC: 2AN: 145504Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 71286
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at