chr19-51017231-A-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_145888.3(KLK10):āc.148T>Gā(p.Ser50Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.646 in 1,611,012 control chromosomes in the GnomAD database, including 341,466 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_145888.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KLK10 | NM_145888.3 | c.148T>G | p.Ser50Ala | missense_variant | 3/6 | ENST00000358789.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KLK10 | ENST00000358789.8 | c.148T>G | p.Ser50Ala | missense_variant | 3/6 | 1 | NM_145888.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.713 AC: 108456AN: 152054Hom.: 40134 Cov.: 34
GnomAD3 exomes AF: 0.637 AC: 153267AN: 240468Hom.: 49863 AF XY: 0.624 AC XY: 81840AN XY: 131190
GnomAD4 exome AF: 0.639 AC: 932836AN: 1458840Hom.: 301282 Cov.: 57 AF XY: 0.633 AC XY: 459473AN XY: 725610
GnomAD4 genome AF: 0.713 AC: 108569AN: 152172Hom.: 40184 Cov.: 34 AF XY: 0.707 AC XY: 52623AN XY: 74390
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at