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NM_016341.4(PLCE1):c.4451C>T (p.Ser1484Leu) AND Nephrotic syndrome, type 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2006
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000002441.3

Allele description [Variation Report for NM_016341.4(PLCE1):c.4451C>T (p.Ser1484Leu)]

NM_016341.4(PLCE1):c.4451C>T (p.Ser1484Leu)

Gene:
PLCE1:phospholipase C epsilon 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_016341.4(PLCE1):c.4451C>T (p.Ser1484Leu)
HGVS:
  • NC_000010.11:g.94270547C>T
  • NG_015799.1:g.281559C>T
  • NM_001165979.2:c.3527C>T
  • NM_001288989.2:c.4403C>T
  • NM_016341.4:c.4451C>TMANE SELECT
  • NP_001159451.1:p.Ser1176Leu
  • NP_001275918.1:p.Ser1468Leu
  • NP_057425.3:p.Ser1484Leu
  • NC_000010.10:g.96030304C>T
  • Q9P212:p.Ser1484Leu
Protein change:
S1176L; SER1484LEU
Links:
UniProtKB: Q9P212#VAR_029883; OMIM: 608414.0007; dbSNP: rs121912605
NCBI 1000 Genomes Browser:
rs121912605
Molecular consequence:
  • NM_001165979.2:c.3527C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288989.2:c.4403C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016341.4:c.4451C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nephrotic syndrome, type 3 (NPHS3)
Synonyms:
NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3
Identifiers:
MONDO: MONDO:0012546; MedGen: C1853124; Orphanet: 656; OMIM: 610725

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022599OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2006) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.

Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nürnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, et al.

Nat Genet. 2006 Dec;38(12):1397-405. Epub 2006 Nov 5.

PubMed [citation]
PMID:
17086182

Details of each submission

From OMIM, SCV000022599.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 Turkish sibs with early-onset nephrotic syndrome (NPHS3; 610725) and consanguineous parents, Hinkes et al. (2006) identified homozygosity for a 4451C-T transition in exon 18 of the PLCE1 gene, resulting in a ser1484-to-leu (S1484L) substitution. Onset of disease in the sibs was 8.8 years and 2 years of age, respectively, with development of end-stage renal disease by 12 years and 4 years of age, respectively. Both sibs were resistant to treatment with steroids and cyclophosphamide; kidney biopsy at age 8.9 years and 4.6 years, respectively, showed focal and segmental glomerulosclerosis (FSGS) in both.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022