rs17570
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000285.4(PEPD):c.1303C>T(p.Leu435Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.256 in 1,594,290 control chromosomes in the GnomAD database, including 55,210 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000285.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PEPD | NM_000285.4 | c.1303C>T | p.Leu435Phe | missense_variant | 14/15 | ENST00000244137.12 | NP_000276.2 | |
PEPD | NM_001166056.2 | c.1180C>T | p.Leu394Phe | missense_variant | 12/13 | NP_001159528.1 | ||
PEPD | NM_001166057.2 | c.1111C>T | p.Leu371Phe | missense_variant | 12/13 | NP_001159529.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PEPD | ENST00000244137.12 | c.1303C>T | p.Leu435Phe | missense_variant | 14/15 | 1 | NM_000285.4 | ENSP00000244137 | P1 |
Frequencies
GnomAD3 genomes AF: 0.302 AC: 45870AN: 152108Hom.: 7707 Cov.: 34
GnomAD3 exomes AF: 0.229 AC: 48307AN: 211038Hom.: 5974 AF XY: 0.225 AC XY: 25869AN XY: 115214
GnomAD4 exome AF: 0.252 AC: 362971AN: 1442064Hom.: 47495 Cov.: 34 AF XY: 0.248 AC XY: 177537AN XY: 715260
GnomAD4 genome AF: 0.302 AC: 45911AN: 152226Hom.: 7715 Cov.: 34 AF XY: 0.296 AC XY: 22024AN XY: 74422
ClinVar
Submissions by phenotype
not specified Benign:2
Benign, criteria provided, single submitter | clinical testing | GeneDx | Sep 29, 2015 | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. - |
Benign, criteria provided, single submitter | clinical testing | Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan | Nov 12, 2023 | This variant is classified as Benign based on local population frequency. This variant was detected in 27% of patients studied by a panel of primary immunodeficiencies. Number of patients: 26. Only high quality variants are reported. - |
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Feb 01, 2024 | - - |
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Prolidase deficiency Benign:1
Benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jan 13, 2018 | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at