chr19-50979867-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_005046.4(KLK7):c.527G>A(p.Cys176Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000000696 in 1,436,946 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C176S) has been classified as Uncertain significance.
Frequency
Consequence
NM_005046.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KLK7 | NM_005046.4 | c.527G>A | p.Cys176Tyr | missense_variant | Exon 5 of 6 | ENST00000595820.6 | NP_005037.1 | |
KLK7 | NM_139277.2 | c.527G>A | p.Cys176Tyr | missense_variant | Exon 5 of 6 | NP_644806.1 | ||
KLK7 | NM_001243126.1 | c.506G>A | p.Cys169Tyr | missense_variant | Exon 4 of 5 | NP_001230055.1 | ||
KLK7 | NM_001207053.2 | c.311G>A | p.Cys104Tyr | missense_variant | Exon 4 of 5 | NP_001193982.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.96e-7 AC: 1AN: 1436946Hom.: 0 Cov.: 33 AF XY: 0.00000140 AC XY: 1AN XY: 711962
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.