NM_000545.8(HNF1A):c.-119del AND Maturity-onset diabetes of the young type 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2000
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:: RCV000016073.26

Allele description [Variation Report for NM_000545.8(HNF1A):c.-119del]

NM_000545.8(HNF1A):c.-119del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

12q24.31

Genomic location:

Preferred name:

NM_000545.8(HNF1A):c.-119del

HGVS:

NC_000012.12:g.120978650del
NG_011731.2:g.4905del
NM_000545.8:c.-119delMANE SELECT
NM_001306179.2:c.-119del
LRG_522:g.4905del
NC_000012.11:g.121416453del

Links:

OMIM: 142410.0010; dbSNP: rs754470733

NCBI 1000 Genomes Browser:

rs754470733

Molecular consequence:

NM_000545.8:c.-119del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001306179.2:c.-119del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036341	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2000)	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

SCV000036341

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2000)

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

Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1alpha (TCF1) promoter region in MODY patients.

Godart F, Bellanné-Chantelot C, Clauin S, Gragnoli C, Abderrahmani A, Blanché H, Boutin P, Chèvre JC, Froguel P, Bailleul B.

Hum Mutat. 2000;15(2):173-80.

PubMed [citation]

PMID:: 10649494

Details of each submission

From OMIM, SCV000036341.3

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

Description

Godart et al. (2000) observed a promoter mutation, -119delG, of the TCF1 gene that segregated with MODY3 (600496) in a diabetic family.

#	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: Dec 24, 2023

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