chr20-3668985-ATCTGGACT-A
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The NM_025220.5(ADAM33):c.2412_2419delAGTCCAGA(p.Gln804HisfsTer13) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0393 in 1,606,126 control chromosomes in the GnomAD database, including 1,712 homozygotes. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_025220.5 frameshift
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: 0.0494 AC: 7513AN: 152044Hom.: 226 Cov.: 31
GnomAD3 exomes AF: 0.0420 AC: 10285AN: 245048Hom.: 476 AF XY: 0.0394 AC XY: 5212AN XY: 132298
GnomAD4 exome AF: 0.0382 AC: 55572AN: 1453964Hom.: 1487 AF XY: 0.0384 AC XY: 27747AN XY: 723178
GnomAD4 genome AF: 0.0494 AC: 7517AN: 152162Hom.: 225 Cov.: 31 AF XY: 0.0509 AC XY: 3787AN XY: 74356
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 in ESP (all): 486/12518=3.8%. Frequency in 1000Genomes: 165/2178= 7.5% -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at