11-70203417-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_003824.4(FADD):c.-43A>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.565 in 1,548,628 control chromosomes in the GnomAD database, including 249,243 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_003824.4 5_prime_UTR
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: 0.565 AC: 85824AN: 151840Hom.: 24473 Cov.: 32
GnomAD3 exomes AF: 0.534 AC: 79246AN: 148398Hom.: 21703 AF XY: 0.531 AC XY: 42644AN XY: 80332
GnomAD4 exome AF: 0.565 AC: 789684AN: 1396672Hom.: 224738 Cov.: 50 AF XY: 0.562 AC XY: 387003AN XY: 689120
GnomAD4 genome AF: 0.565 AC: 85907AN: 151956Hom.: 24505 Cov.: 32 AF XY: 0.562 AC XY: 41745AN XY: 74248
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 43% of patients studied by a panel of primary immunodeficiencies. Number of patients: 41. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at