U.S. flag

An official website of the United States government

NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter) AND Maturity onset diabetes mellitus in young

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 21, 2017
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:
RCV002338986.2

Allele description [Variation Report for NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter)]

NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter)

Gene:
HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter)
Other names:
NM_000545.8(HNF1A):c.511C>T; p.Arg171Ter
HGVS:
  • NC_000012.12:g.120989017C>T
  • NG_011731.2:g.15272C>T
  • NM_000545.6:c.511C>T
  • NM_000545.8:c.511C>TMANE SELECT
  • NM_001306179.2:c.511C>T
  • NP_000536.6:p.Arg171Ter
  • NP_001293108.2:p.Arg171Ter
  • LRG_522t1:c.511C>T
  • LRG_522:g.15272C>T
  • NC_000012.11:g.121426820C>T
  • NM_000545.5:c.511C>T
  • p.ARG171*
Protein change:
R171*
Links:
dbSNP: rs1057520291
NCBI 1000 Genomes Browser:
rs1057520291
Molecular consequence:
  • NM_000545.8:c.511C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001306179.2:c.511C>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002642221Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Feb 21, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway.

Bjørkhaug L, Sagen JV, Thorsby P, Søvik O, Molven A, Njølstad PR.

J Clin Endocrinol Metab. 2003 Feb;88(2):920-31.

PubMed [citation]
PMID:
12574234

Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.

Bennett JT, Vasta V, Zhang M, Narayanan J, Gerrits P, Hahn SH.

Mol Genet Metab. 2015 Mar;114(3):451-8. doi: 10.1016/j.ymgme.2014.12.304. Epub 2014 Dec 20.

PubMed [citation]
PMID:
25555642
PMCID:
PMC7852340
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002642221.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The p.R171* pathogenic mutation (also known as c.511C>T), located in coding exon 2 of the HNF1A gene, results from a C to T substitution at nucleotide position 511. This changes the amino acid from an arginine to a stop codon within coding exon 2. This mutation has been observed to co-segregate with disease in families with maturity-onset diabetes of the young (MODY) (Vaxillaire M et al, Hum. Mol. Genet. 1997; 6(4):583-6; Bjørkhaug et al, J. Clin. Endocrinol. Metab. 2003; 88(2):920-31) and has been reported in multiple proband's with a MODY phenotype (Bennett JT et al. Mol. Genet. Metab., 2015 Mar;114:451-8; de Santana LS et al. Clin. Genet., 2017 Feb; [Epub ahead of print]). Functional studies demonstrated that this mutation significantly decreases transcriptional activity and results in the absence of DNA binding ability (Bjørkhaug et al, J. Clin. Endocrinol. Metab. 2003; 88(2):920-31). 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.

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

Last Updated: Oct 13, 2024