chr16-24361836-G-A
Variant summary
Our verdict is Benign. The variant received -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_006539.4(CACNG3):c.921G>A(p.Pro307Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0403 in 1,610,680 control chromosomes in the GnomAD database, including 1,504 homozygotes. 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_006539.4 synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0333 AC: 5066AN: 152032Hom.: 117 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.0374 AC: 9275AN: 247904 AF XY: 0.0399 show subpopulations
GnomAD4 exome AF: 0.0410 AC: 59822AN: 1458530Hom.: 1387 Cov.: 32 AF XY: 0.0418 AC XY: 30321AN XY: 725604 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0333 AC: 5070AN: 152150Hom.: 117 Cov.: 31 AF XY: 0.0334 AC XY: 2485AN XY: 74370 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at