chr3-119916215-T-C
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Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001146156.2(GSK3B):c.478-41A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00319 in 1,517,208 control chromosomes in the GnomAD database, including 138 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.017 ( 81 hom., cov: 32)
Exomes 𝑓: 0.0016 ( 57 hom. )
Consequence
GSK3B
NM_001146156.2 intron
NM_001146156.2 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.115
Genes affected
GSK3B (HGNC:4617): (glycogen synthase kinase 3 beta) The protein encoded by this gene is a serine-threonine kinase belonging to the glycogen synthase kinase subfamily. It is a negative regulator of glucose homeostasis and is involved in energy metabolism, inflammation, ER-stress, mitochondrial dysfunction, and apoptotic pathways. Defects in this gene have been associated with Parkinson disease and Alzheimer disease. [provided by RefSeq, Aug 2017]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BP6
Variant 3-119916215-T-C is Benign according to our data. Variant chr3-119916215-T-C is described in ClinVar as [Benign]. Clinvar id is 1262531.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0587 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GSK3B | NM_001146156.2 | c.478-41A>G | intron_variant | ENST00000264235.13 | |||
GSK3B | NM_001354596.2 | c.478-41A>G | intron_variant | ||||
GSK3B | NM_002093.4 | c.478-41A>G | intron_variant | ||||
GSK3B | XM_006713610.4 | c.478-41A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GSK3B | ENST00000264235.13 | c.478-41A>G | intron_variant | 1 | NM_001146156.2 | A1 |
Frequencies
GnomAD3 genomes AF: 0.0173 AC: 2637AN: 152158Hom.: 81 Cov.: 32
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GnomAD3 exomes AF: 0.00428 AC: 1014AN: 236980Hom.: 27 AF XY: 0.00293 AC XY: 377AN XY: 128844
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GnomAD4 exome AF: 0.00161 AC: 2202AN: 1364932Hom.: 57 Cov.: 20 AF XY: 0.00130 AC XY: 886AN XY: 683464
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GnomAD4 genome AF: 0.0173 AC: 2638AN: 152276Hom.: 81 Cov.: 32 AF XY: 0.0166 AC XY: 1234AN XY: 74458
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 25, 2019 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at