1-215169219-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001017425.3(KCNK2):c.496C>T(p.Arg166Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000697 in 1,607,442 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001017425.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152110Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000568 AC: 14AN: 246422Hom.: 0 AF XY: 0.0000675 AC XY: 9AN XY: 133318
GnomAD4 exome AF: 0.0000722 AC: 105AN: 1455214Hom.: 0 Cov.: 29 AF XY: 0.0000622 AC XY: 45AN XY: 723706
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74416
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.496C>T (p.R166C) alteration is located in exon 4 (coding exon 4) of the KCNK2 gene. This alteration results from a C to T substitution at nucleotide position 496, causing the arginine (R) at amino acid position 166 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at