rs1801475
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 1P and 20B. PP2BP4_StrongBP6_Very_StrongBA1
The NM_172107.4(KCNQ2):c.2339A>C(p.Asn780Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.637 in 1,604,550 control chromosomes in the GnomAD database, including 328,384 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_172107.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.595 AC: 90517AN: 152022Hom.: 27458 Cov.: 35
GnomAD3 exomes AF: 0.609 AC: 140836AN: 231186Hom.: 43252 AF XY: 0.614 AC XY: 77931AN XY: 126864
GnomAD4 exome AF: 0.642 AC: 931932AN: 1452412Hom.: 300914 Cov.: 66 AF XY: 0.640 AC XY: 462208AN XY: 722134
GnomAD4 genome AF: 0.595 AC: 90562AN: 152138Hom.: 27470 Cov.: 35 AF XY: 0.598 AC XY: 44509AN XY: 74386
ClinVar
Submissions by phenotype
not specified Benign:7
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This variant is classified as Benign based on local population frequency. This variant was detected in 86% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 80. Only high quality variants are reported. -
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Seizures, benign familial neonatal, 1 Benign:2Other:1
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not provided Benign:2
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This variant is associated with the following publications: (PMID: 28038823) -
Inborn genetic diseases Benign:1
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Early infantile epileptic encephalopathy with suppression bursts Benign:1
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Developmental and epileptic encephalopathy, 7 Benign:1
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Complex neurodevelopmental disorder Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at