chr11-1436037-C-T
Variant names:
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBS1BS2
The NM_001256627.2(BRSK2):c.92-3C>T variant causes a splice region, intron change. The variant allele was found at a frequency of 0.00115 in 1,603,538 control chromosomes in the GnomAD database, including 15 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Genomes: 𝑓 0.00098 ( 0 hom., cov: 28)
Exomes 𝑓: 0.0012 ( 15 hom. )
Consequence
BRSK2
NM_001256627.2 splice_region, intron
NM_001256627.2 splice_region, intron
Scores
2
Splicing: ADA: 0.07717
2
Clinical Significance
Conservation
PhyloP100: 5.49
Genes affected
BRSK2 (HGNC:11405): (BR serine/threonine kinase 2) Enables several functions, including ATP binding activity; ATPase binding activity; and protein kinase activity. Involved in several processes, including cellular protein metabolic process; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; and regulation of insulin secretion involved in cellular response to glucose stimulus. Located in centrosome and endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -18 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.41).
BP6
Variant 11-1436037-C-T is Benign according to our data. Variant chr11-1436037-C-T is described in ClinVar as [Likely_benign]. Clinvar id is 720380.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BS1
Variant frequency is greater than expected in population sas. gnomad4 allele frequency = 0.000976 (148/151610) while in subpopulation SAS AF= 0.00836 (40/4786). AF 95% confidence interval is 0.00631. There are 0 homozygotes in gnomad4. There are 73 alleles in male gnomad4 subpopulation. Median coverage is 28. This position pass quality control queck.
BS2
High Homozygotes in GnomAdExome4 at 15 gene
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000984 AC: 149AN: 151490Hom.: 0 Cov.: 28
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GnomAD3 exomes AF: 0.00191 AC: 454AN: 237902Hom.: 2 AF XY: 0.00240 AC XY: 311AN XY: 129500
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GnomAD4 exome AF: 0.00116 AC: 1690AN: 1451928Hom.: 15 Cov.: 31 AF XY: 0.00145 AC XY: 1050AN XY: 721754
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GnomAD4 genome AF: 0.000976 AC: 148AN: 151610Hom.: 0 Cov.: 28 AF XY: 0.000986 AC XY: 73AN XY: 74072
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ClinVar
Significance: Benign/Likely benign
Submissions summary: Benign:4
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:3
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | May 08, 2018 | - - |
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Dec 01, 2024 | BRSK2: BP4, BS2 - |
BRSK2-related disorder Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Aug 17, 2022 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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dbscSNV1_ADA
Benign
dbscSNV1_RF
Benign
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at