NM_000545.8(HNF1A):c.587_590del (p.Thr196fs) AND Maturity-onset diabetes of the young type 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2003
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000016082.30

Allele description [Variation Report for NM_000545.8(HNF1A):c.587_590del (p.Thr196fs)]

NM_000545.8(HNF1A):c.587_590del (p.Thr196fs)

Gene:

HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

12q24.31

Genomic location:

Preferred name:

NM_000545.8(HNF1A):c.587_590del (p.Thr196fs)

HGVS:

NC_000012.12:g.120993576CCAA[1]
NG_011731.2:g.19831CCAA[1]
NG_011731.2:g.19835_19838del
NM_000545.8:c.587_590delMANE SELECT
NM_001306179.2:c.587_590del
NP_000536.6:p.Thr196fs
NP_001293108.2:p.Thr196fs
LRG_522:g.19831CCAA[1]
NC_000012.11:g.121431379CCAA[1]
NG_011731.2:g.19835_19838del

Nucleotide change:

4-BP DEL

Protein change:

T196fs

Links:

OMIM: 142410.0017; dbSNP: rs2135839114

NCBI 1000 Genomes Browser:

rs2135839114

Molecular consequence:

NM_000545.8:c.587_590del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001306179.2:c.587_590del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Gene ID:55148665

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036350	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036350

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2003)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway.

Bjørkhaug L, Sagen JV, Thorsby P, Søvik O, Molven A, Njølstad PR.

J Clin Endocrinol Metab. 2003 Feb;88(2):920-31.

PubMed [citation]

PMID:: 12574234

Details of each submission

From OMIM, SCV000036350.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Norwegian family with MODY3 (600496), Bjorkhaug et al. (2003) detected a novel 4-bp deletion in exon 3 of the HNF1A gene (T196fsdelCCAA).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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