chr19-51015930-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_145888.3(KLK10):c.496G>A(p.Gly166Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000535 in 1,588,354 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. G166E) has been classified as Uncertain significance.
Frequency
Consequence
NM_145888.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KLK10 | NM_145888.3 | c.496G>A | p.Gly166Arg | missense_variant | 4/6 | ENST00000358789.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KLK10 | ENST00000358789.8 | c.496G>A | p.Gly166Arg | missense_variant | 4/6 | 1 | NM_145888.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152236Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000430 AC: 9AN: 209280Hom.: 0 AF XY: 0.0000353 AC XY: 4AN XY: 113358
GnomAD4 exome AF: 0.0000571 AC: 82AN: 1436000Hom.: 0 Cov.: 38 AF XY: 0.0000590 AC XY: 42AN XY: 711966
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152354Hom.: 0 Cov.: 34 AF XY: 0.0000268 AC XY: 2AN XY: 74504
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 16, 2021 | The c.496G>A (p.G166R) alteration is located in exon 4 (coding exon 3) of the KLK10 gene. This alteration results from a G to A substitution at nucleotide position 496, causing the glycine (G) at amino acid position 166 to be replaced by an arginine (R). 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