rs3734444
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_021073.4(BMP5):āc.111T>Cā(p.Ser37Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.425 in 1,613,042 control chromosomes in the GnomAD database, including 149,912 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_021073.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.484 AC: 73333AN: 151610Hom.: 18593 Cov.: 30
GnomAD3 exomes AF: 0.433 AC: 108676AN: 250924Hom.: 24687 AF XY: 0.426 AC XY: 57787AN XY: 135598
GnomAD4 exome AF: 0.419 AC: 611588AN: 1461316Hom.: 131286 Cov.: 61 AF XY: 0.417 AC XY: 302974AN XY: 726972
GnomAD4 genome AF: 0.484 AC: 73429AN: 151726Hom.: 18626 Cov.: 30 AF XY: 0.485 AC XY: 35933AN XY: 74098
ClinVar
Submissions by phenotype
BMP5-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