rs151228365
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_002246.3(KCNK3):c.423C>A(p.His141Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00077 in 1,611,298 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_002246.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KCNK3 | NM_002246.3 | c.423C>A | p.His141Gln | missense_variant | 2/2 | ENST00000302909.4 | NP_002237.1 | |
KCNK3 | XM_005264293.3 | c.93C>A | p.His31Gln | missense_variant | 2/2 | XP_005264350.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KCNK3 | ENST00000302909.4 | c.423C>A | p.His141Gln | missense_variant | 2/2 | 1 | NM_002246.3 | ENSP00000306275 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000959 AC: 146AN: 152264Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000745 AC: 186AN: 249766Hom.: 0 AF XY: 0.000733 AC XY: 99AN XY: 135012
GnomAD4 exome AF: 0.000751 AC: 1095AN: 1458916Hom.: 1 Cov.: 31 AF XY: 0.000746 AC XY: 541AN XY: 725300
GnomAD4 genome AF: 0.000958 AC: 146AN: 152382Hom.: 1 Cov.: 33 AF XY: 0.00117 AC XY: 87AN XY: 74522
ClinVar
Submissions by phenotype
Pulmonary hypertension, primary, 4 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 24, 2024 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
KCNK3-related disorder Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Sep 04, 2024 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at