chr3-119916215-T-C

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

Scores

2

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: 0.115
Variant links:
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
GSK3BNM_001146156.2 linkuse as main transcriptc.478-41A>G intron_variant ENST00000264235.13
GSK3BNM_001354596.2 linkuse as main transcriptc.478-41A>G intron_variant
GSK3BNM_002093.4 linkuse as main transcriptc.478-41A>G intron_variant
GSK3BXM_006713610.4 linkuse as main transcriptc.478-41A>G intron_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
GSK3BENST00000264235.13 linkuse as main transcriptc.478-41A>G intron_variant 1 NM_001146156.2 A1P49841-1

Frequencies

GnomAD3 genomes
AF:
0.0173
AC:
2637
AN:
152158
Hom.:
81
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.0608
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00603
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.0000588
Gnomad OTH
AF:
0.0105
GnomAD3 exomes
AF:
0.00428
AC:
1014
AN:
236980
Hom.:
27
AF XY:
0.00293
AC XY:
377
AN XY:
128844
show subpopulations
Gnomad AFR exome
AF:
0.0592
Gnomad AMR exome
AF:
0.00304
Gnomad ASJ exome
AF:
0.00
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.000140
Gnomad FIN exome
AF:
0.00
Gnomad NFE exome
AF:
0.0000741
Gnomad OTH exome
AF:
0.00158
GnomAD4 exome
AF:
0.00161
AC:
2202
AN:
1364932
Hom.:
57
Cov.:
20
AF XY:
0.00130
AC XY:
886
AN XY:
683464
show subpopulations
Gnomad4 AFR exome
AF:
0.0571
Gnomad4 AMR exome
AF:
0.00332
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.000134
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.0000913
Gnomad4 OTH exome
AF:
0.00289
GnomAD4 genome
AF:
0.0173
AC:
2638
AN:
152276
Hom.:
81
Cov.:
32
AF XY:
0.0166
AC XY:
1234
AN XY:
74458
show subpopulations
Gnomad4 AFR
AF:
0.0606
Gnomad4 AMR
AF:
0.00602
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.0000588
Gnomad4 OTH
AF:
0.0104
Alfa
AF:
0.00850
Hom.:
8
Bravo
AF:
0.0190
Asia WGS
AF:
0.00231
AC:
8
AN:
3478

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 submitterclinical testingGeneDxJul 25, 2019- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.90
CADD
Benign
10
DANN
Benign
0.64

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs9825770; hg19: chr3-119635062; API