chr19-51016086-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_145888.3(KLK10):c.340C>T(p.Arg114Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000101 in 1,576,778 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign 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. R114H) 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KLK10 | NM_145888.3 | c.340C>T | p.Arg114Cys | missense_variant | 4/6 | ENST00000358789.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KLK10 | ENST00000358789.8 | c.340C>T | p.Arg114Cys | missense_variant | 4/6 | 1 | NM_145888.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152234Hom.: 1 Cov.: 34
GnomAD3 exomes AF: 0.0000209 AC: 4AN: 191532Hom.: 0 AF XY: 0.00000974 AC XY: 1AN XY: 102672
GnomAD4 exome AF: 0.00000842 AC: 12AN: 1424544Hom.: 0 Cov.: 61 AF XY: 0.00000992 AC XY: 7AN XY: 705382
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152234Hom.: 1 Cov.: 34 AF XY: 0.0000403 AC XY: 3AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at