16-47515525-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_000293.3(PHKB):c.518A>C(p.Asn173Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. N173S) has been classified as Likely benign.
Frequency
Consequence
NM_000293.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PHKB | NM_000293.3 | c.518A>C | p.Asn173Thr | missense_variant | 6/31 | ENST00000323584.10 | |
PHKB | NM_001363837.1 | c.518A>C | p.Asn173Thr | missense_variant | 6/31 | ||
PHKB | NM_001031835.3 | c.497A>C | p.Asn166Thr | missense_variant | 7/32 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PHKB | ENST00000323584.10 | c.518A>C | p.Asn173Thr | missense_variant | 6/31 | 1 | NM_000293.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 19
GnomAD4 genome Cov.: 32
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.