rs118203989
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001042702.5(PJVK):c.499C>G(p.Arg167Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000041 in 1,461,820 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. R167R) has been classified as Likely benign.
Frequency
Consequence
NM_001042702.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PJVK | NM_001042702.5 | c.499C>G | p.Arg167Gly | missense_variant | 4/7 | ENST00000644580.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PJVK | ENST00000644580.2 | c.499C>G | p.Arg167Gly | missense_variant | 4/7 | NM_001042702.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249444Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135326
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461820Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 727204
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at