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NM_000545.8(HNF1A):c.864G>C (p.Gly288=) AND Type 2 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:
RCV002226671.4

Allele description [Variation Report for NM_000545.8(HNF1A):c.864G>C (p.Gly288=)]

NM_000545.8(HNF1A):c.864G>C (p.Gly288=)

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.864G>C (p.Gly288=)
Other names:
p.G288G:GGG>GGC
HGVS:
  • NC_000012.12:g.120994314G>C
  • NG_011731.2:g.20569G>C
  • NM_000545.6:c.864G>C
  • NM_000545.8:c.864G>CMANE SELECT
  • NM_001306179.2:c.864G>C
  • NP_000536.6:p.Gly288=
  • NP_001293108.2:p.Gly288=
  • LRG_522t1:c.864G>C
  • LRG_522:g.20569G>C
  • NC_000012.11:g.121432117G>C
  • NM_000545.5:c.864G>C
Links:
dbSNP: rs56348580
NCBI 1000 Genomes Browser:
rs56348580
Molecular consequence:
  • NM_000545.8:c.864G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001306179.2:c.864G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Type 2 diabetes mellitus
Synonyms:
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
Identifiers:
MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002505646Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002505646.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearchnot provided

Description

Mutations in HNF1A gene can predispose to MODY3. It is associated with both micro and macrovascular complications of diabetes, especially cardiovascular complications. HNF1A gene is associated with glucosuria and response to sulfonylureas. However, the role of rs56348580 in the predisposition to diabetes remains unclear.

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

Last Updated: Nov 3, 2024