NM_002945.5:c.12A>G
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BA1
The NM_002945.5(RPA1):c.12A>G(p.Gln4Gln) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.746 in 1,249,336 control chromosomes in the GnomAD database, including 354,203 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_002945.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.681 AC: 103513AN: 151928Hom.: 36340 Cov.: 31
GnomAD3 exomes AF: 0.662 AC: 14278AN: 21576Hom.: 4873 AF XY: 0.667 AC XY: 6386AN XY: 9570
GnomAD4 exome AF: 0.755 AC: 828869AN: 1097292Hom.: 317840 Cov.: 50 AF XY: 0.754 AC XY: 391088AN XY: 518374
GnomAD4 genome AF: 0.681 AC: 103584AN: 152044Hom.: 36363 Cov.: 31 AF XY: 0.671 AC XY: 49852AN XY: 74326
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 67% of patients studied by a panel of primary immunodeficiencies. Number of patients: 64. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at