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NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala) AND Maturity-onset diabetes of the young type 3

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV001115116.5

Allele description [Variation Report for NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala)]

NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala)

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.586A>G (p.Thr196Ala)
HGVS:
  • NC_000012.12:g.120993579A>G
  • NG_011731.2:g.19834A>G
  • NM_000545.6:c.586A>G
  • NM_000545.8:c.586A>GMANE SELECT
  • NM_001306179.2:c.586A>G
  • NP_000536.6:p.Thr196Ala
  • NP_001293108.2:p.Thr196Ala
  • LRG_522t1:c.586A>G
  • LRG_522:g.19834A>G
  • NC_000012.11:g.121431382A>G
  • NM_000545.5:c.586A>G
Protein change:
T196A
Links:
dbSNP: rs139712739
NCBI 1000 Genomes Browser:
rs139712739
Molecular consequence:
  • NM_000545.8:c.586A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306179.2:c.586A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Maturity-onset diabetes of the young type 3
Synonyms:
Diabetes mellitus MODY type 3; MODY hepatocyte nuclear factor-1-alpha related; MODY type 3; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010894; MedGen: C1838100; Orphanet: 552; OMIM: 600496

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001273061Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Triple diabetes: coexistence of type 1 diabetes mellitus and a novel mutation in the gene responsible for MODY3 in an overweight adolescent.

Bowden SA, Hoffman RP.

Pediatr Diabetes. 2008 Apr;9(2):162-4. doi: 10.1111/j.1399-5448.2007.00335.x. Epub 2008 Jan 19.

PubMed [citation]
PMID:
18221440

The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.

Bellanné-Chantelot C, Carette C, Riveline JP, Valéro R, Gautier JF, Larger E, Reznik Y, Ducluzeau PH, Sola A, Hartemann-Heurtier A, Lecomte P, Chaillous L, Laloi-Michelin M, Wilhem JM, Cuny P, Duron F, Guerci B, Jeandidier N, Mosnier-Pudar H, Assayag M, Dubois-Laforgue D, Velho G, et al.

Diabetes. 2008 Feb;57(2):503-8. Epub 2007 Nov 14.

PubMed [citation]
PMID:
18003757
See all PubMed Citations (5)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001273061.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Sep 29, 2024