U.S. flag

An official website of the United States government

NM_000285.4(PEPD):c.*52T>C AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 12, 2023
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:
RCV003401344.2

Allele description [Variation Report for NM_000285.4(PEPD):c.*52T>C]

NM_000285.4(PEPD):c.*52T>C

Gene:
PEPD:peptidase D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.11
Genomic location:
Preferred name:
NM_000285.4(PEPD):c.*52T>C
HGVS:
  • NC_000019.10:g.33387292A>G
  • NG_013358.2:g.139602T>C
  • NM_000285.4:c.*52T>CMANE SELECT
  • NM_001166056.2:c.*52T>C
  • NM_001166057.2:c.*52T>C
  • NC_000019.9:g.33878198A>G
  • NG_013358.1:g.139602T>C
  • NM_000285.3:c.*52T>C
Links:
dbSNP: rs1061338
NCBI 1000 Genomes Browser:
rs1061338
Molecular consequence:
  • NM_000285.4:c.*52T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001166056.2:c.*52T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001166057.2:c.*52T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
Observations:
24

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004102462Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Nov 12, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineno24not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan, SCV004102462.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided24not providednot providedclinical testing PubMed (1)

Description

This variant is classified as Benign based on local population frequency. This variant was detected in 25% of patients studied by a panel of primary immunodeficiencies. Number of patients: 24. Only high quality variants are reported.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot provided24not providednot providednot provided

Last Updated: Sep 29, 2024