12-914052-G-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP6BS1BS2
The NM_134424.4(RAD52):c.1037C>A(p.Ser346*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.013 in 1,614,122 control chromosomes in the GnomAD database, including 251 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_134424.4 stop_gained
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: 0.0107 AC: 1624AN: 152118Hom.: 19 Cov.: 32
GnomAD3 exomes AF: 0.0165 AC: 4118AN: 249554Hom.: 70 AF XY: 0.0189 AC XY: 2557AN XY: 135402
GnomAD4 exome AF: 0.0132 AC: 19292AN: 1461886Hom.: 232 Cov.: 32 AF XY: 0.0145 AC XY: 10529AN XY: 727246
GnomAD4 genome AF: 0.0106 AC: 1621AN: 152236Hom.: 19 Cov.: 32 AF XY: 0.0119 AC XY: 889AN XY: 74418
ClinVar
Submissions by phenotype
RAD52-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