chr12-48771867-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_015270.5(ADCY6):c.2894G>A(p.Arg965His) variant causes a missense change. The variant allele was found at a frequency of 0.00252 in 1,614,160 control chromosomes in the GnomAD database, including 13 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_015270.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00164 AC: 250AN: 152174Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00123 AC: 310AN: 251480Hom.: 1 AF XY: 0.00127 AC XY: 172AN XY: 135918
GnomAD4 exome AF: 0.00261 AC: 3813AN: 1461868Hom.: 12 Cov.: 31 AF XY: 0.00253 AC XY: 1843AN XY: 727236
GnomAD4 genome AF: 0.00164 AC: 249AN: 152292Hom.: 1 Cov.: 32 AF XY: 0.00167 AC XY: 124AN XY: 74454
ClinVar
Submissions by phenotype
ADCY6-related disorder Benign:1
This variant is classified as likely 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