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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022599	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022599

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 2006)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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