rs2229437
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_005040.4(PRCP):c.336A>T(p.Glu112Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000372 in 1,612,134 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_005040.4 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 |
---|---|---|---|---|---|---|---|
PRCP | NM_005040.4 | c.336A>T | p.Glu112Asp | missense_variant | 3/9 | ENST00000313010.8 | |
PRCP | NM_199418.4 | c.399A>T | p.Glu133Asp | missense_variant | 4/10 | ||
PRCP | NM_001319214.2 | c.21A>T | p.Glu7Asp | missense_variant | 2/8 | ||
PRCP | XM_005274093.2 | c.21A>T | p.Glu7Asp | missense_variant | 3/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRCP | ENST00000313010.8 | c.336A>T | p.Glu112Asp | missense_variant | 3/9 | 1 | NM_005040.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000395 AC: 6AN: 152060Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249904Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135090
GnomAD4 exome AF: 0.0000370 AC: 54AN: 1460074Hom.: 0 Cov.: 31 AF XY: 0.0000372 AC XY: 27AN XY: 726396
GnomAD4 genome ? AF: 0.0000395 AC: 6AN: 152060Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74266
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at