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NM_000545.8(HNF1A):c.160C>G (p.Arg54Gly) 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:
RCV002465366.1

Allele description [Variation Report for NM_000545.8(HNF1A):c.160C>G (p.Arg54Gly)]

NM_000545.8(HNF1A):c.160C>G (p.Arg54Gly)

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.160C>G (p.Arg54Gly)
HGVS:
  • NC_000012.12:g.120978928C>G
  • NG_011731.2:g.5183C>G
  • NM_000545.8:c.160C>GMANE SELECT
  • NM_001306179.2:c.160C>G
  • NM_001406915.1:c.160C>G
  • NP_000536.5:p.Arg54Gly
  • NP_000536.6:p.Arg54Gly
  • NP_001293108.2:p.Arg54Gly
  • NP_001393844.1:p.Arg54Gly
  • LRG_522t1:c.160C>G
  • LRG_522:g.5183C>G
  • LRG_522p1:p.Arg54Gly
  • NC_000012.11:g.121416731C>G
  • NM_000545.5:c.160C>G
Protein change:
R54G
Links:
dbSNP: rs766956862
NCBI 1000 Genomes Browser:
rs766956862
Molecular consequence:
  • NM_000545.8:c.160C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306179.2:c.160C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406915.1:c.160C>G - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002605528Clinical 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 (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.

Ivanoshchuk DE, Shakhtshneider EV, Rymar OD, Ovsyannikova AK, Mikhailova SV, Fishman VS, Valeev ES, Orlov PS, Voevoda MI.

J Pers Med. 2021 Jan 18;11(1). doi:pii: 57. 10.3390/jpm11010057.

PubMed [citation]
PMID:
33477506
PMCID:
PMC7831070

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002605528.1

#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 rs766956862 with MODY3.

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

Last Updated: Dec 17, 2022