rs1663002
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_002246.3(KCNK3):c.*13G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.994 in 1,421,272 control chromosomes in the GnomAD database, including 702,751 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_002246.3 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.969 AC: 147425AN: 152122Hom.: 71603 Cov.: 32
GnomAD3 exomes AF: 0.993 AC: 63315AN: 63758Hom.: 31461 AF XY: 0.995 AC XY: 32931AN XY: 33100
GnomAD4 exome AF: 0.997 AC: 1265449AN: 1269032Hom.: 631086 Cov.: 44 AF XY: 0.998 AC XY: 612914AN XY: 614450
GnomAD4 genome AF: 0.969 AC: 147546AN: 152240Hom.: 71665 Cov.: 32 AF XY: 0.970 AC XY: 72197AN XY: 74422
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
Pulmonary hypertension, primary, 4 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at