rs72556537
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001082486.2(ACD):c.*32T>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0903 in 1,613,908 control chromosomes in the GnomAD database, including 7,411 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001082486.2 3_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: 0.0787 AC: 11967AN: 152148Hom.: 638 Cov.: 33
GnomAD3 exomes AF: 0.0943 AC: 23687AN: 251172Hom.: 1384 AF XY: 0.0924 AC XY: 12547AN XY: 135768
GnomAD4 exome AF: 0.0915 AC: 133703AN: 1461642Hom.: 6772 Cov.: 34 AF XY: 0.0916 AC XY: 66617AN XY: 727118
GnomAD4 genome AF: 0.0786 AC: 11973AN: 152266Hom.: 639 Cov.: 33 AF XY: 0.0806 AC XY: 6001AN XY: 74432
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 26% of patients studied by a panel of primary immunodeficiencies. Number of patients: 25. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at