11-82853252-T-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005040.4(PRCP):āc.336A>Cā(p.Glu112Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.169 in 1,610,152 control chromosomes in the GnomAD database, including 23,998 homozygotes. In-silico tool predicts 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 the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_005040.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PRCP | NM_005040.4 | c.336A>C | p.Glu112Asp | missense_variant | Exon 3 of 9 | ENST00000313010.8 | NP_005031.1 | |
PRCP | NM_199418.4 | c.399A>C | p.Glu133Asp | missense_variant | Exon 4 of 10 | NP_955450.2 | ||
PRCP | NM_001319214.2 | c.21A>C | p.Glu7Asp | missense_variant | Exon 2 of 8 | NP_001306143.1 | ||
PRCP | XM_005274093.2 | c.21A>C | p.Glu7Asp | missense_variant | Exon 3 of 9 | XP_005274150.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.154 AC: 23485AN: 152020Hom.: 1877 Cov.: 32
GnomAD3 exomes AF: 0.155 AC: 38845AN: 249904Hom.: 3318 AF XY: 0.160 AC XY: 21633AN XY: 135090
GnomAD4 exome AF: 0.171 AC: 248760AN: 1458012Hom.: 22104 Cov.: 31 AF XY: 0.171 AC XY: 123940AN XY: 725350
GnomAD4 genome AF: 0.155 AC: 23537AN: 152140Hom.: 1894 Cov.: 32 AF XY: 0.151 AC XY: 11229AN XY: 74374
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at