1-39764659-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001720.5(BMP8B):c.832G>A(p.Glu278Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000245 in 1,613,388 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001720.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00107 AC: 162AN: 151868Hom.: 1 Cov.: 30
GnomAD3 exomes AF: 0.000291 AC: 73AN: 250824Hom.: 0 AF XY: 0.000192 AC XY: 26AN XY: 135628
GnomAD4 exome AF: 0.000159 AC: 233AN: 1461402Hom.: 1 Cov.: 31 AF XY: 0.000143 AC XY: 104AN XY: 727028
GnomAD4 genome AF: 0.00107 AC: 162AN: 151986Hom.: 1 Cov.: 30 AF XY: 0.000861 AC XY: 64AN XY: 74336
ClinVar
Submissions by phenotype
not provided Uncertain:1
The BMP8B c.832G>A (p.Glu278Lys) variant, to our knowledge, has not been reported in the medical literature. The highest population minor allele frequency in the population database genome aggregation database (v.2.1.1) is 0.42% in the African population. Computational predictors suggest that the variant does not impact BMP8B function. Due to limited information, the clinical significance of this variant is uncertain. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at