chr5-114362981-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_021614.4(KCNN2):c.842C>G(p.Ser281Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000000695 in 1,438,698 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S281F) has been classified as Uncertain significance.
Frequency
Consequence
NM_021614.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCNN2 | NM_021614.4 | c.842C>G | p.Ser281Cys | missense_variant | 1/8 | ENST00000673685.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNN2 | ENST00000673685.1 | c.842C>G | p.Ser281Cys | missense_variant | 1/8 | NM_021614.4 | P2 | ||
KCNN2 | ENST00000512097.10 | c.1040C>G | p.Ser347Cys | missense_variant | 6/13 | 5 | A2 | ||
KCNN2 | ENST00000631899.2 | c.245C>G | p.Ser82Cys | missense_variant | 1/9 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.95e-7 AC: 1AN: 1438698Hom.: 0 Cov.: 34 AF XY: 0.00000140 AC XY: 1AN XY: 715220
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | Oct 25, 2023 | PM2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at