12-913403-A-C
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The NM_134424.4(RAD52):āc.1245T>Gā(p.Tyr415*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0209 in 1,607,040 control chromosomes in the GnomAD database, including 866 homozygotes. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_134424.4 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0218 AC: 3322AN: 152238Hom.: 115 Cov.: 32
GnomAD3 exomes AF: 0.0353 AC: 8771AN: 248588Hom.: 440 AF XY: 0.0313 AC XY: 4223AN XY: 135024
GnomAD4 exome AF: 0.0208 AC: 30250AN: 1454684Hom.: 749 Cov.: 30 AF XY: 0.0203 AC XY: 14711AN XY: 724152
GnomAD4 genome AF: 0.0219 AC: 3334AN: 152356Hom.: 117 Cov.: 32 AF XY: 0.0228 AC XY: 1698AN XY: 74496
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency I 1000Genomes: 39/2178= 1.7% -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at