19-50949006-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012427.5(KLK5):c.445G>A(p.Gly149Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000192 in 1,613,744 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/23 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012427.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151876Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.000103 AC: 26AN: 251458Hom.: 0 AF XY: 0.0000883 AC XY: 12AN XY: 135910
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1461868Hom.: 0 Cov.: 32 AF XY: 0.0000179 AC XY: 13AN XY: 727232
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151876Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 74148
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.445G>A (p.G149S) alteration is located in exon 4 (coding exon 3) of the KLK5 gene. This alteration results from a G to A substitution at nucleotide position 445, causing the glycine (G) at amino acid position 149 to be replaced by a serine (S). 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