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NM_014625.4(NPHS2):c.353C>T (p.Pro118Leu) AND Proteinuria

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 28, 2015
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:
RCV000208227.1

Allele description [Variation Report for NM_014625.4(NPHS2):c.353C>T (p.Pro118Leu)]

NM_014625.4(NPHS2):c.353C>T (p.Pro118Leu)

Gene:
NPHS2:NPHS2 stomatin family member, podocin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.2
Genomic location:
Preferred name:
NM_014625.4(NPHS2):c.353C>T (p.Pro118Leu)
HGVS:
  • NC_000001.11:g.179564715G>A
  • NG_007535.1:g.16235C>T
  • NM_001297575.2:c.353C>T
  • NM_014625.4:c.353C>TMANE SELECT
  • NP_001284504.1:p.Pro118Leu
  • NP_055440.1:p.Pro118Leu
  • NP_055440.1:p.Pro118Leu
  • LRG_887t1:c.353C>T
  • LRG_887:g.16235C>T
  • LRG_887p1:p.Pro118Leu
  • NC_000001.10:g.179533850G>A
  • NM_014625.2:c.353C>T
  • NM_014625.3:c.353C>T
  • Q9NP85:p.Pro118Leu
Protein change:
P118L
Links:
UniProtKB: Q9NP85#VAR_071219; dbSNP: rs869025495
NCBI 1000 Genomes Browser:
rs869025495
Molecular consequence:
  • NM_001297575.2:c.353C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014625.4:c.353C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Proteinuria
Identifiers:
MONDO: MONDO:0003634; MedGen: C0033687; Human Phenotype Ontology: HP:0000093

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000264138Blueprint Genetics
criteria provided, single submitter

(Variant Classification)		Pathogenic
(Sep 28, 2015) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.

Berdeli A, Mir S, Yavascan O, Serdaroglu E, Bak M, Aksu N, Oner A, Anarat A, Donmez O, Yildiz N, Sever L, Tabel Y, Dusunsel R, Sonmez F, Cakar N.

Pediatr Nephrol. 2007 Dec;22(12):2031-40. Epub 2007 Sep 25.

PubMed [citation]
PMID:
17899208

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I, Imm A, Ruf EM, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F; Arbeitsgemeinschaft Für Pädiatrische Nephrologie Study Group..

J Am Soc Nephrol. 2004 Mar;15(3):722-32.

PubMed [citation]
PMID:
14978175
See all PubMed Citations (5)

Details of each submission

From Blueprint Genetics, SCV000264138.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024