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NM_000285.4(PEPD):c.*333_*337dup AND Prolidase deficiency

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000295185.5

Allele description [Variation Report for NM_000285.4(PEPD):c.*333_*337dup]

NM_000285.4(PEPD):c.*333_*337dup

Gene:
PEPD:peptidase D [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.11
Genomic location:
Preferred name:
NM_000285.4(PEPD):c.*333_*337dup
HGVS:
  • NC_000019.10:g.33387008_33387012dup
  • NG_013358.2:g.139883_139887dup
  • NM_000285.4:c.*333_*337dupMANE SELECT
  • NM_001166056.2:c.*333_*337dup
  • NM_001166057.2:c.*333_*337dup
  • NC_000019.9:g.33877914_33877918dup
  • NG_013358.1:g.139883_139887dup
  • NM_000285.3:c.*333_*337dupACTTT
Links:
dbSNP: rs140842
NCBI 1000 Genomes Browser:
rs140842
Molecular consequence:
  • NM_000285.4:c.*333_*337dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001166056.2:c.*333_*337dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001166057.2:c.*333_*337dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Prolidase deficiency
Identifiers:
MONDO: MONDO:0008221; MedGen: C0268532; Orphanet: 742; OMIM: 170100

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000411436Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000411436.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 9, 2023