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NM_000458.4(HNF1B):c.187del (p.His63fs) AND Maturity onset diabetes mellitus in young

Germline classification:
Pathogenic (1 submission)
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:
RCV002465857.1

Allele description [Variation Report for NM_000458.4(HNF1B):c.187del (p.His63fs)]

NM_000458.4(HNF1B):c.187del (p.His63fs)

Gene:
HNF1B:HNF1 homeobox B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_000458.4(HNF1B):c.187del (p.His63fs)
HGVS:
  • NC_000017.11:g.37744699del
  • NG_013019.2:g.5409del
  • NM_000458.4:c.187delMANE SELECT
  • NM_001165923.4:c.187del
  • NM_001304286.2:c.187del
  • NP_000449.1:p.His63fs
  • NP_001159395.1:p.His63fs
  • NP_001291215.1:p.His63fs
  • NC_000017.10:g.36104690del
Protein change:
H63fs
Links:
dbSNP: rs2034117925
NCBI 1000 Genomes Browser:
rs2034117925
Molecular consequence:
  • NM_000458.4:c.187del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001165923.4:c.187del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304286.2:c.187del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Maturity onset diabetes mellitus in young (MODY)
Synonyms:
Mason type diabetes
Identifiers:
MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002754370Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)		Pathogenicunknownresearch

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

The HNF1B score is a simple tool to select patients for HNF1B gene analysis.

Faguer S, Chassaing N, Bandin F, Prouheze C, Garnier A, Casemayou A, Huart A, Schanstra JP, Calvas P, Decramer S, Chauveau D.

Kidney Int. 2014 Nov;86(5):1007-15. doi: 10.1038/ki.2014.202. Epub 2014 Jun 4. Review.

PubMed [citation]
PMID:
24897035

HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C.

Nat Rev Nephrol. 2015 Feb;11(2):102-12. doi: 10.1038/nrneph.2014.232. Epub 2014 Dec 23. Review.

PubMed [citation]
PMID:
25536396
See all PubMed Citations (8)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002754370.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearch PubMed (8)

Description

HNF1B gene mutations are associated with early onset diabetes and pancreatic atrophy. It is also associated with multiple renal manifestations including renal cysts, Tubulointerstitial disease, glomerulocystic disease, renal hypoplasia, hypomagnesemia. However no sufficient evidence is found to ascertain the role of this particular variant rs2034117925, yet.

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

Last Updated: Jul 29, 2023