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NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys) AND Maturity onset diabetes mellitus in young

Germline classification:
Uncertain significance (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:
RCV002464352.8

Allele description [Variation Report for NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys)]

NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys)

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.142G>A (p.Glu48Lys)
Other names:
NM_001306179.1:c.142G>A
HGVS:
  • NC_000012.12:g.120978910G>A
  • NG_011731.2:g.5165G>A
  • NM_000545.8:c.142G>AMANE SELECT
  • NM_001306179.2:c.142G>A
  • NP_000536.6:p.Glu48Lys
  • NP_001293108.2:p.Glu48Lys
  • LRG_522t1:c.142G>A
  • LRG_522:g.5165G>A
  • NC_000012.11:g.121416713G>A
  • NC_000012.11:g.121416713G>A
  • NM_000545.5:c.142G>A
  • NM_000545.6:c.142G>A
Protein change:
E48K
Links:
dbSNP: rs772222326
NCBI 1000 Genomes Browser:
rs772222326
Molecular consequence:
  • NM_000545.8:c.142G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306179.2:c.142G>A - 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
SCV002605555Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

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

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.

Najmi LA, Aukrust I, Flannick J, Molnes J, Burtt N, Molven A, Groop L, Altshuler D, Johansson S, Bjørkhaug L, Njølstad PR.

Diabetes. 2017 Feb;66(2):335-346. doi: 10.2337/db16-0460. Epub 2016 Nov 29.

PubMed [citation]
PMID:
27899486
PMCID:
PMC5860263

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002605555.1

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

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. Sufficient evidence is found to confer the association of this particular variant rs772222326 with MODY3.

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

Last Updated: Jul 15, 2024