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NM_000545.8(HNF1A):c.526+1G>T AND Maturity onset diabetes mellitus in young

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 18, 2018
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:
RCV002341022.2

Allele description [Variation Report for NM_000545.8(HNF1A):c.526+1G>T]

NM_000545.8(HNF1A):c.526+1G>T

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.526+1G>T
Other names:
NM_001306179.2:c.526+1G>T
HGVS:
  • NC_000012.12:g.120989033G>T
  • NG_011731.2:g.15288G>T
  • NM_000545.8:c.526+1G>TMANE SELECT
  • NM_001306179.2:c.526+1G>T
  • NM_001406915.1:c.526+1G>T
  • LRG_522t1:c.526+1G>T
  • LRG_522:g.15288G>T
  • NC_000012.11:g.121426836G>T
  • NM_000545.5:c.526+1G>T
Molecular consequence:
  • NM_000545.8:c.526+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001306179.2:c.526+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406915.1:c.526+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002643842Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jun 18, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002643842.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.526+1G>T intronic pathogenic mutation results from a G to T substitution one nucleotide after coding exon 2 of the HNF1A gene. While this specific mutation has not been reported in the literature to date, two other mutations at the same location, c.526+1G>A and c.526+1G>C, have been reported in maturity-onset diabetes of the young (MODY)-3 patients (Frayling et al. Diabetes. 2001 Feb;50 Suppl1:S94-100; Bellanne-Chantelot et al. Diabetes. 2008 Feb;57(2):503-8; Habeb et al.Ann Saudi Med. 2011 Mar-Apr;31(2):190-3). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as pathogenic.

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

Last Updated: May 1, 2024