rs148957991
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001017425.3(KCNK2):c.50C>T(p.Ala17Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000031 in 1,612,592 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: 0.000105 AC: 16AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000321 AC: 8AN: 249304Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134826
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1460316Hom.: 0 Cov.: 31 AF XY: 0.0000206 AC XY: 15AN XY: 726422
GnomAD4 genome AF: 0.000112 AC: 17AN: 152276Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74470
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.50C>T (p.A17V) alteration is located in exon 2 (coding exon 2) of the KCNK2 gene. This alteration results from a C to T substitution at nucleotide position 50, causing the alanine (A) at amino acid position 17 to be replaced by a valine (V). 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