chr6-39303963-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_031460.4(KCNK17):c.682G>A(p.Val228Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000273 in 1,612,106 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031460.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KCNK17 | ENST00000373231.9 | c.682G>A | p.Val228Met | missense_variant | Exon 4 of 5 | 1 | NM_031460.4 | ENSP00000362328.4 | ||
KCNK17 | ENST00000453413.2 | c.682G>A | p.Val228Met | missense_variant | Exon 4 of 6 | 5 | ENSP00000401271.2 | |||
KCNK17 | ENST00000503878.1 | n.*16G>A | downstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152138Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000361 AC: 9AN: 249444Hom.: 0 AF XY: 0.0000519 AC XY: 7AN XY: 134880
GnomAD4 exome AF: 0.0000288 AC: 42AN: 1459968Hom.: 0 Cov.: 32 AF XY: 0.0000262 AC XY: 19AN XY: 726264
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152138Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.682G>A (p.V228M) alteration is located in exon 4 (coding exon 4) of the KCNK17 gene. This alteration results from a G to A substitution at nucleotide position 682, causing the valine (V) at amino acid position 228 to be replaced by a methionine (M). 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