NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter) AND Maturity onset diabetes mellitus in young

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 17, 2018
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:: RCV002343589.6

Allele description [Variation Report for NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)]

NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)

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.544C>T (p.Gln182Ter)

HGVS:

NC_000017.11:g.37739440G>A
NG_013019.2:g.10667C>T
NM_000458.4:c.544C>TMANE SELECT
NM_001165923.4:c.544C>T
NM_001304286.2:c.544C>T
NP_000449.1:p.Gln182Ter
NP_001159395.1:p.Gln182Ter
NP_001291215.1:p.Gln182Ter
NC_000017.10:g.36099431G>A
NM_000458.2:c.544C>T
NM_000458.3:c.544C>T

Protein change:

Q182*

Links:

Molecular consequence:

NM_000458.4:c.544C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001165923.4:c.544C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001304286.2:c.544C>T - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002648123	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Apr 17, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 15068978, 22706971, 25500806 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002648123

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Apr 17, 2018)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

Bellanné-Chantelot C, Chauveau D, Gautier JF, Dubois-Laforgue D, Clauin S, Beaufils S, Wilhelm JM, Boitard C, Noël LH, Velho G, Timsit J.

Ann Intern Med. 2004 Apr 6;140(7):510-7.

PubMed [citation]

PMID:: 15068978

HNF1B deficiency causes ciliary defects in human cholangiocytes.

Roelandt P, Antoniou A, Libbrecht L, Van Steenbergen W, Laleman W, Verslype C, Van der Merwe S, Nevens F, De Vos R, Fischer E, Pontoglio M, Lemaigre F, Cassiman D.

Hepatology. 2012 Sep;56(3):1178-81. doi: 10.1002/hep.25876. Epub 2012 Jul 19.

PubMed [citation]

PMID:: 22706971

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002648123.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The p.Q182* pathogenic mutation (also known as c.544C>T), located in coding exon 2 of the HNF1B gene, results from a C to T substitution at nucleotide position 544. This changes the amino acid from a glutamine to a stop codon within coding exon 2. This alteration has been reported in individuals with renal disease and diabetes syndrome, including a de novo occurrence (Bellanné-Chantelot C et al. Ann. Intern. Med., 2004 Apr;140:510-7; Raaijmakers A et al. Nephrol. Dial. Transplant., 2015 May;30:835-42; Roelandt P et al. Hepatology, 2012 Sep;56:1178-81). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2025

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