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NM_003361.4(UMOD):c.743G>C (p.Cys248Ser) AND Familial juvenile hyperuricemic nephropathy type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 15, 2010
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:
RCV002251329.9

Allele description [Variation Report for NM_003361.4(UMOD):c.743G>C (p.Cys248Ser)]

NM_003361.4(UMOD):c.743G>C (p.Cys248Ser)

Gene:
UMOD:uromodulin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.3
Genomic location:
Preferred name:
NM_003361.4(UMOD):c.743G>C (p.Cys248Ser)
HGVS:
  • NC_000016.10:g.20348558C>G
  • NG_008151.1:g.9158G>C
  • NM_001008389.3:c.743G>C
  • NM_001278614.2:c.842G>C
  • NM_001378232.1:c.743G>C
  • NM_001378233.1:c.743G>C
  • NM_001378234.1:c.743G>C
  • NM_001378235.1:c.743G>C
  • NM_001378237.1:c.743G>C
  • NM_003361.4:c.743G>CMANE SELECT
  • NP_001008390.1:p.Cys248Ser
  • NP_001265543.1:p.Cys281Ser
  • NP_001365161.1:p.Cys248Ser
  • NP_001365162.1:p.Cys248Ser
  • NP_001365163.1:p.Cys248Ser
  • NP_001365164.1:p.Cys248Ser
  • NP_001365166.1:p.Cys248Ser
  • NP_003352.2:p.Cys248Ser
  • NP_003352.2:p.Cys248Ser
  • NC_000016.9:g.20359880C>G
  • NM_003361.3:c.743G>C
  • NR_165456.1:n.968G>C
Protein change:
C248S; CYS248SER
Links:
OMIM: 191845.0013; dbSNP: rs398122388
NCBI 1000 Genomes Browser:
rs398122388
Molecular consequence:
  • NM_001008389.3:c.743G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278614.2:c.842G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378232.1:c.743G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378233.1:c.743G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378234.1:c.743G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378235.1:c.743G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378237.1:c.743G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003361.4:c.743G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165456.1:n.968G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Familial juvenile hyperuricemic nephropathy type 1 (ADTKD1)
Synonyms:
Medullary cystic kidney disease 2, autosomal dominant; TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1; Glomerulocystic kidney disease with hyperuricemia and isosthenuria; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008073; MedGen: C4551496; Orphanet: 209886; Orphanet: 34149; OMIM: 162000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000083059OMIM
no assertion criteria provided
Pathogenic
(May 15, 2010) 		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

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.

Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CW, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MT.

Hum Mol Genet. 2010 May 15;19(10):1985-97. doi: 10.1093/hmg/ddq077. Epub 2010 Feb 18.

PubMed [citation]
PMID:
20172860
PMCID:
PMC2860893

Details of each submission

From OMIM, SCV000083059.3

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

Description

In 3 members of a 2-generation family (F6) with autosomal dominant tubulointerstitial kidney disease-1 (ADTKD1; 162000), Zaucke et al. (2010) identified a heterozygous c.743G-C transversion in the UMOD gene, resulting in a cys248-to-ser substitution (C248S) at a conserved residue in the D8C domain. The father exhibited hypertension, gout, congestive heart failure, varices, and an aortic aneurysm. Renal biopsy showed tubular atrophy, tubulointerstitial fibrosis, and a thickened tubular basement membrane.

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

Last Updated: Nov 10, 2024