3-71781472-G-C
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PM5PP3_Moderate
The NM_001126128.2(PROK2):āc.217C>Gā(p.Arg73Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000479 in 1,461,762 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R73C) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001126128.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PROK2 | NM_001126128.2 | c.217C>G | p.Arg73Gly | missense_variant | 2/4 | ENST00000295619.4 | |
PROK2 | NM_021935.4 | c.217C>G | p.Arg73Gly | missense_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PROK2 | ENST00000295619.4 | c.217C>G | p.Arg73Gly | missense_variant | 2/4 | 1 | NM_001126128.2 | ||
PROK2 | ENST00000353065.7 | c.217C>G | p.Arg73Gly | missense_variant | 2/3 | 1 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251420Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135900
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461762Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 727192
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at