NM_001718.6:c.83G>A
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_001718.6(BMP6):c.83G>A(p.Arg28Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.449 in 1,134,860 control chromosomes in the GnomAD database, including 117,458 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001718.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.368 AC: 54797AN: 148784Hom.: 10973 Cov.: 33
GnomAD3 exomes AF: 0.598 AC: 360AN: 602Hom.: 105 AF XY: 0.621 AC XY: 174AN XY: 280
GnomAD4 exome AF: 0.462 AC: 455249AN: 985968Hom.: 106483 Cov.: 30 AF XY: 0.462 AC XY: 214761AN XY: 464384
GnomAD4 genome AF: 0.368 AC: 54819AN: 148892Hom.: 10975 Cov.: 33 AF XY: 0.365 AC XY: 26512AN XY: 72606
ClinVar
Submissions by phenotype
BMP6-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at