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NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys) AND Maturity onset diabetes mellitus in young

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Review status:
criteria provided, conflicting classifications
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:
RCV002051926.3

Allele description [Variation Report for NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys)]

NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys)

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.340C>T (p.Arg114Cys)
HGVS:
  • NC_000012.12:g.120988846C>T
  • NG_011731.2:g.15101C>T
  • NM_000545.8:c.340C>TMANE SELECT
  • NM_001306179.2:c.340C>T
  • NP_000536.6:p.Arg114Cys
  • NP_001293108.2:p.Arg114Cys
  • LRG_522:g.15101C>T
  • NC_000012.11:g.121426649C>T
  • NM_001306179.1:c.340C>T
Protein change:
R114C
Links:
dbSNP: rs774996577
NCBI 1000 Genomes Browser:
rs774996577
Molecular consequence:
  • NM_000545.8:c.340C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306179.2:c.340C>T - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002318386Molecular Genetics, Madras Diabetes Research Foundation
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significancegermlineclinical testing

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

SCV002758781Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

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

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedresearch
Indiansgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes.

Balamurugan K, Bjørkhaug L, Mahajan S, Kanthimathi S, Njølstad PR, Srinivasan N, Mohan V, Radha V.

Clin Genet. 2016 Dec;90(6):486-495. doi: 10.1111/cge.12757. Epub 2016 Mar 4.

PubMed [citation]
PMID:
26853433

Identification of novel variants in the hepatocyte nuclear factor-1alpha gene in South Indian patients with maturity onset diabetes of young.

Radha V, Ek J, Anuradha S, Hansen T, Pedersen O, Mohan V.

J Clin Endocrinol Metab. 2009 Jun;94(6):1959-65. doi: 10.1210/jc.2008-2371. Epub 2009 Mar 31.

PubMed [citation]
PMID:
19336507
See all PubMed Citations (7)

Details of each submission

From Molecular Genetics, Madras Diabetes Research Foundation, SCV002318386.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indiansnot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002758781.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearch PubMed (4)

Description

Mutations in HNF1A gene can predispose to MODY3. It is associated with both micro and macrovascular complications of diabetes, especially cardiovascular complications. Associated with glucosuria. May respond well to sulfonylureas. However, more evidence is required to confer the association of this particular variant rs774996577 with MODY3.

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

Last Updated: Mar 30, 2024