rs754682495
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 1P and 6B. PP2BP4BP6BS2
The NM_172107.4(KCNQ2):c.1232C>T(p.Pro411Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000009 in 1,556,060 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_172107.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000184 AC: 3AN: 162788Hom.: 0 AF XY: 0.0000350 AC XY: 3AN XY: 85828
GnomAD4 exome AF: 0.00000784 AC: 11AN: 1403766Hom.: 0 Cov.: 31 AF XY: 0.0000115 AC XY: 8AN XY: 692668
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152294Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74452
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1232C>T (p.P411L) alteration is located in exon 11 (coding exon 11) of the KCNQ2 gene. This alteration results from a C to T substitution at nucleotide position 1232, causing the proline (P) at amino acid position 411 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Uncertain:1
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Early infantile epileptic encephalopathy with suppression bursts Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at