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NM_014625.4(NPHS2):c.274G>T (p.Gly92Cys) AND Nephrotic syndrome, type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2000
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:
RCV000005697.2

Allele description

NM_014625.4(NPHS2):c.274G>T (p.Gly92Cys)

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.274G>T (p.Gly92Cys)
HGVS:
  • NC_000001.11:g.179575591C>A
  • NG_007535.1:g.5359G>T
  • NM_001297575.2:c.274G>T
  • NM_014625.4:c.274G>TMANE SELECT
  • NP_001284504.1:p.Gly92Cys
  • NP_055440.1:p.Gly92Cys
  • LRG_887:g.5359G>T
  • NC_000001.10:g.179544726C>A
Protein change:
G92C; GLY92CYS
Links:
OMIM: 604766.0007; dbSNP: rs74315345
NCBI 1000 Genomes Browser:
rs74315345
Molecular consequence:
  • NM_001297575.2:c.274G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014625.4:c.274G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nephrotic syndrome, type 2 (NPHS2)
Synonyms:
Nephrotic syndrome, steroid-resistant, autosomal recessive
Identifiers:
MONDO: MONDO:0010974; MedGen: C1868672; Orphanet: 656; OMIM: 600995

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000025879OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 2000) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

Fuchshuber A, Jean G, Gribouval O, Gubler MC, Broyer M, Beckmann JS, Niaudet P, Antignac C.

Hum Mol Genet. 1995 Nov;4(11):2155-8.

PubMed [citation]
PMID:
8589695

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C.

Nat Genet. 2000 Apr;24(4):349-54. Erratum in: Nat Genet 2000 May;25(1):125.

PubMed [citation]
PMID:
10742096

Details of each submission

From OMIM, SCV000025879.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a family with autosomal recessive steroid-resistant nephrotic syndrome (600995) previously reported by Fuchshuber et al. (1995), Boute et al. (2000) identified a 274G-T transversion in exon 1 of the NPHS2 gene resulting in a gly92-to-cys (G92C) substitution. This mutation was found on the paternal allele; no mutation was identified on the maternal allele. In addition to being a missense mutation, this mutation also alters the last nucleotide of exon 1 and thus probably alters splicing.

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

Last Updated: Feb 20, 2022