rs759060806
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBP6_Very_Strong
The NM_020822.3(KCNT1):c.2944-19T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Genomes: 𝑓 0.051 ( 0 hom., cov: 0)
Exomes 𝑓: 0.15 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
KCNT1
NM_020822.3 intron
NM_020822.3 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.369
Genes affected
KCNT1 (HGNC:18865): (potassium sodium-activated channel subfamily T member 1) Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.94).
BP6
Variant 9-135784516-T-C is Benign according to our data. Variant chr9-135784516-T-C is described in ClinVar as [Likely_benign]. Clinvar id is 445520.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1176AN: 22810Hom.: 0 Cov.: 0 FAILED QC
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GnomAD3 exomes AF: 0.122 AC: 4388AN: 35912Hom.: 0 AF XY: 0.118 AC XY: 2266AN XY: 19262
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.149 AC: 18140AN: 121982Hom.: 0 Cov.: 0 AF XY: 0.152 AC XY: 10010AN XY: 65644
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GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0514 AC: 1176AN: 22860Hom.: 0 Cov.: 0 AF XY: 0.0484 AC XY: 554AN XY: 11440
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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:2
Aug 15, 2019
GeneDx
Significance: Benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing
- -
Jun 29, 2017
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
Significance: Likely benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing
- -
Developmental and epileptic encephalopathy, 14 Benign:1
Mar 15, 2022
Genome-Nilou Lab
Significance: Benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing
- -
Autosomal dominant nocturnal frontal lobe epilepsy 5 Benign:1
Mar 15, 2022
Genome-Nilou Lab
Significance: Benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing
- -
Computational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at