22-17181789-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001282225.2(ADA2):c.1442+31G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.296 in 1,578,648 control chromosomes in the GnomAD database, including 73,240 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001282225.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.271 AC: 41195AN: 152008Hom.: 6033 Cov.: 33
GnomAD3 exomes AF: 0.247 AC: 61195AN: 247978Hom.: 8757 AF XY: 0.248 AC XY: 33277AN XY: 133934
GnomAD4 exome AF: 0.299 AC: 425832AN: 1426520Hom.: 67210 Cov.: 26 AF XY: 0.296 AC XY: 210569AN XY: 711554
GnomAD4 genome AF: 0.271 AC: 41206AN: 152128Hom.: 6030 Cov.: 33 AF XY: 0.265 AC XY: 19688AN XY: 74376
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 34% of patients studied by a panel of primary immunodeficiencies. Number of patients: 33. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at