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NM_000458.4(HNF1B):c.1138del (p.Val380fs) 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:
RCV000787089.2

Allele description

NM_000458.4(HNF1B):c.1138del (p.Val380fs)

Gene:
HNF1B:HNF1 homeobox B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_000458.4(HNF1B):c.1138del (p.Val380fs)
HGVS:
  • NC_000017.11:g.37710572del
  • NG_013019.2:g.39536del
  • NM_000458.4:c.1138delMANE SELECT
  • NM_001165923.4:c.1060del
  • NM_001304286.2:c.1060del
  • NP_000449.1:p.Val380fs
  • NP_001159395.1:p.Val354fs
  • NP_001291215.1:p.Val354fs
  • NC_000017.10:g.36070580del
  • NM_000458.3:c.1138del
Protein change:
V354fs
Links:
Molecular consequence:
  • NM_000458.4:c.1138del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001165923.4:c.1060del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304286.2:c.1060del - 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
SCV000926016Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
criteria provided, single submitter

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

PubMed (2)
[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

Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.

Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L, Waller S, Bowman P, Ford T, Ellard S, Hattersley AT, Bingham C.

Kidney Int. 2016 Jul;90(1):203-11. doi: 10.1016/j.kint.2016.03.027. Epub 2016 May 24.

PubMed [citation]
PMID:
27234567
PMCID:
PMC4915913

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000926016.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024