1-36091266-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6BP7BA1
The NM_017825.3(ADPRS):c.234C>T(p.Asp78Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0134 in 1,614,118 control chromosomes in the GnomAD database, including 1,359 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_017825.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0305 AC: 4636AN: 152198Hom.: 241 Cov.: 33
GnomAD3 exomes AF: 0.0327 AC: 8222AN: 251226Hom.: 611 AF XY: 0.0284 AC XY: 3859AN XY: 135812
GnomAD4 exome AF: 0.0116 AC: 16984AN: 1461802Hom.: 1118 Cov.: 31 AF XY: 0.0111 AC XY: 8038AN XY: 727206
GnomAD4 genome AF: 0.0305 AC: 4646AN: 152316Hom.: 241 Cov.: 33 AF XY: 0.0323 AC XY: 2405AN XY: 74484
ClinVar
Submissions by phenotype
ADPRS-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