NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp) AND Renal cysts and diabetes syndrome

Clinical significance:Uncertain significance (Last evaluated: Jul 6, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000787147.1

Allele description [Variation Report for NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)]

NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)

Gene:
HNF1B:HNF1 homeobox B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
HGVS:
  • NC_000017.11:g.37733586C>G
  • NG_013019.2:g.16521G>C
  • NM_000458.4:c.780G>CMANE SELECT
  • NM_001165923.4:c.702G>C
  • NM_001304286.2:c.702G>C
  • NP_000449.1:p.Glu260Asp
  • NP_001159395.1:p.Glu234Asp
  • NP_001291215.1:p.Glu234Asp
  • NC_000017.10:g.36093579C>G
  • NM_000458.2:c.780G>C
  • NM_000458.3:c.780G>C
Protein change:
E234D
Links:
Molecular consequence:
  • NM_000458.4:c.780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165923.4:c.702G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304286.2:c.702G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Renal cysts and diabetes syndrome (RCAD)
Synonyms:
Maturity-onset diabetes of the young, type 5; MODY type 5; Hyperuricemic nephropathy, familial juvenile, atypical; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007669; MedGen: C0431693; Orphanet: 93111; OMIM: 137920

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000926077Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnbergcriteria provided, single submitter
Uncertain significance
(Jul 6, 2019)
germlineliterature only

PubMed (6)
[See all records that cite these PMIDs]

Description

This variant and it's classification has been reported by Vasileiou et al. 2019; DOI:10.1101/576918. The variants has previously been reported in PMID:25700310; PMID:15660195; PMID:25705165; PMID:25536396; PMID:14583183 as "c.780G>C; c.780G>C; E260D, GAG-->GAC" with clinical significance Pathogenic. It has been re-classified using InterVar and manual curation as Uncertain significance based on PM1 PP3 PP5 BP6.

SCV000926077

Summary from all submissions

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

Citations

PubMed

A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.

Alvelos MI, Rodrigues M, Lobo L, Medeira A, Sousa AB, Simão C, Lemos MC.

Medicine (Baltimore). 2015 Feb;94(7):e469. doi: 10.1097/MD.0000000000000469.

PubMed [citation]
PMID:
25700310
PMCID:
PMC4554182

Scanning for MODY5 gene mutations in Chinese early onset or multiple affected diabetes pedigrees.

Wang C, Fang Q, Zhang R, Lin X, Xiang K.

Acta Diabetol. 2004 Dec;41(4):137-45.

PubMed [citation]
PMID:
15660195
See all PubMed Citations (6)

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000926077.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2021

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