rs1800317
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000152.5(GAA):c.*3G>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 0.0319 in 1,613,106 control chromosomes in the GnomAD database, including 2,389 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000152.5 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: 0.0596 AC: 9068AN: 152064Hom.: 547 Cov.: 32
GnomAD3 exomes AF: 0.0490 AC: 12312AN: 251086Hom.: 653 AF XY: 0.0502 AC XY: 6820AN XY: 135828
GnomAD4 exome AF: 0.0290 AC: 42332AN: 1460924Hom.: 1841 Cov.: 31 AF XY: 0.0315 AC XY: 22891AN XY: 726830
GnomAD4 genome AF: 0.0597 AC: 9086AN: 152182Hom.: 548 Cov.: 32 AF XY: 0.0614 AC XY: 4570AN XY: 74384
ClinVar
Submissions by phenotype
Glycogen storage disease, type II Benign:3
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This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
not provided Benign:3
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not specified Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at