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NM_000458.4(HNF1B):c.143del (p.Leu48fs) AND Renal cysts and diabetes syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 6, 2019
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:
RCV000787249.3

Allele description [Variation Report for NM_000458.4(HNF1B):c.143del (p.Leu48fs)]

NM_000458.4(HNF1B):c.143del (p.Leu48fs)

Gene:
HNF1B:HNF1 homeobox B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_000458.4(HNF1B):c.143del (p.Leu48fs)
HGVS:
  • NC_000017.11:g.37744742del
  • NG_013019.2:g.5365del
  • NM_000458.4:c.143delMANE SELECT
  • NM_001165923.4:c.143del
  • NM_001304286.2:c.143del
  • NP_000449.1:p.Leu48fs
  • NP_001159395.1:p.Leu48fs
  • NP_001291215.1:p.Leu48fs
  • NC_000017.10:g.36104733del
  • NM_000458.3:c.143del
Protein change:
L48fs
Links:
Molecular consequence:
  • NM_000458.4:c.143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001165923.4:c.143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304286.2:c.143del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000926181Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 6, 2019) 		germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Help

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

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.

Bellanné-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C, Dubois-Laforgue D, Dusselier L, Gautier JF, Jadoul M, Laloi-Michelin M, Jacquesson L, Larger E, Louis J, Nicolino M, Subra JF, Wilhem JM, Young J, Velho G, Timsit J.

Diabetes. 2005 Nov;54(11):3126-32.

PubMed [citation]
PMID:
16249435
See all PubMed Citations (4)

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000926181.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024