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NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) AND Insulin-resistant diabetes mellitus

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:
RCV002226669.2

Allele description [Variation Report for NM_000545.8(HNF1A):c.1545G>A (p.Thr515=)]

NM_000545.8(HNF1A):c.1545G>A (p.Thr515=)

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.1545G>A (p.Thr515=)
Other names:
p.T515T:ACG>ACA
HGVS:
  • NC_000012.12:g.120999311G>A
  • NG_011731.2:g.25566G>A
  • NM_000545.6:c.1545G>A
  • NM_000545.8:c.1545G>AMANE SELECT
  • NM_001306179.2:c.1545G>A
  • NP_000536.6:p.Thr515=
  • NP_001293108.2:p.Thr515=
  • LRG_522t1:c.1545G>A
  • LRG_522:g.25566G>A
  • NC_000012.11:g.121437114G>A
  • NM_000545.5:c.1545G>A
Links:
dbSNP: rs55834942
NCBI 1000 Genomes Browser:
rs55834942
Molecular consequence:
  • NM_000545.8:c.1545G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001306179.2:c.1545G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Insulin-resistant diabetes mellitus
Identifiers:
MedGen: C0854110; Human Phenotype Ontology: HP:0000831

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002505509Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

(K&H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria)		Uncertain significancesomaticresearch

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes.

Jafar-Mohammadi B, Groves CJ, Owen KR, Frayling TM, Hattersley AT, McCarthy MI, Gloyn AL.

PLoS One. 2009 Aug 12;4(8):e6615. doi: 10.1371/journal.pone.0006615.

PubMed [citation]
PMID:
19672314
PMCID:
PMC2720540

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002505509.1

#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 and response to sulfonylureas. However, there is insufficient evidence that rs55834942 plays a role in MODY and or micro and macro vascular complications of Diabetes Mellitus and needs further clinical evaluation.

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

Last Updated: May 7, 2024