NM_016341.3(PLCE1):c.3736C>T (p.Arg1246Ter) AND Nephrotic syndrome, type 3

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2010)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000002444.3

Allele description [Variation Report for NM_016341.3(PLCE1):c.3736C>T (p.Arg1246Ter)]

NM_016341.3(PLCE1):c.3736C>T (p.Arg1246Ter)

Gene:
PLCE1:phospholipase C epsilon 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_016341.3(PLCE1):c.3736C>T (p.Arg1246Ter)
HGVS:
  • NC_000010.11:g.94259072C>T
  • NG_015799.1:g.270084C>T
  • NM_016341.3:c.3736C>T
  • NP_057425.3:p.Arg1246Ter
  • NC_000010.10:g.96018829C>T
Protein change:
R1246*; ARG1246TER
Links:
OMIM: 608414.0010; dbSNP: rs267606955
NCBI 1000 Genomes Browser:
rs267606955
Allele Frequency:
0.00003(T)
Molecular consequence:
  • NM_016341.3:c.3736C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022602OMIMno assertion criteria providedPathogenic
(Jul 1, 2010)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.

Boyer O, Benoit G, Gribouval O, Nevo F, Pawtowski A, Bilge I, Bircan Z, DeschĂȘnes G, Guay-Woodford LM, Hall M, Macher MA, Soulami K, Stefanidis CJ, Weiss R, Loirat C, Gubler MC, Antignac C.

J Med Genet. 2010 Jul;47(7):445-52. doi: 10.1136/jmg.2009.076166.

PubMed [citation]
PMID:
20591883

Details of each submission

From OMIM, SCV000022602.2

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

Description

In affected members of 2 consanguineous families from Greece and Turkey, respectively, with NPHS3 (NPHS3; 610725), Boyer et al. (2010) identified a homozygous 3736C-T transition in exon 13 of the PLCE1 gene, resulting in an arg1246-to-ter (R1246X) substitution. Renal biopsies of these 3 patients showed focal segmental glomerulosclerosis. The same homozygous R1246X mutation was also found in 2 unrelated patients of Bosnian and Serbian descent with sporadic disease; renal biopsies in these patients showed diffuse mesangial sclerosis. Most patients had onset of nephrotic syndrome before age 1 year, and all had end-stage renal failure by age 7 years.

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

Last Updated: Jul 21, 2018