NM_000545.8(HNF1A):c.130del (p.Leu44fs) AND Maturity-onset diabetes of the young type 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 18, 2011
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:: RCV000030478.3

Allele description [Variation Report for NM_000545.8(HNF1A):c.130del (p.Leu44fs)]

NM_000545.8(HNF1A):c.130del (p.Leu44fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

12q24.31

Genomic location:

Preferred name:

NM_000545.8(HNF1A):c.130del (p.Leu44fs)

Other names:

NM_000545.8(HNF1A):c.130del; p.Leu44fs

HGVS:

NC_000012.12:g.120978898del
NG_011731.2:g.5153del
NM_000545.8:c.130delMANE SELECT
NM_001306179.2:c.130del
NP_000536.6:p.Leu44fs
NP_001293108.2:p.Leu44fs
LRG_522t1:c.130del
LRG_522:g.5153del
NC_000012.11:g.121416701del
NM_000545.5:c.130delC
p.Leu44TrpfsX111

Protein change:

L44fs

Links:

dbSNP: rs193922578

NCBI 1000 Genomes Browser:

rs193922578

Molecular consequence:

NM_000545.8:c.130del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001306179.2:c.130del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV000053148	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	pathogenic (Aug 18, 2011)	germline	curation, clinical testing	PubMed (2) [See all records that cite these PMIDs] 12453976, 15305805 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000053148

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

pathogenic
(Aug 18, 2011)

germline

curation, clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	7	not provided	not provided	7	not provided	curation
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect.

Klupa T, Warram JH, Antonellis A, Pezzolesi M, Nam M, Malecki MT, Doria A, Rich SS, Krolewski AS.

Diabetes Care. 2002 Dec;25(12):2292-301.

PubMed [citation]

PMID:: 12453976

Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY).

McKinney JL, Cao H, Robinson JF, Metzger DL, Cummings E, Riddell DC, Sanderson SR, Pacaud D, Ho J, Hegele RA.

Clin Invest Med. 2004 Jun;27(3):135-41.

PubMed [citation]

PMID:: 15305805

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000053148.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	curation	PubMed (2)
2	not provided	3	not provided	not provided	curation	PubMed (2)
3	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

"Author mentions variant detected in 4 members from a Caucasian family diagnosed with diabetes; the average age at onset was 11 with a range from 10-13; Controls not tested": PubMed [ID: 12453976]
"Variant found in 3 members of a Canadian family, 24 yr old mother, 18 yr old son and 14 yr old daughter, Mother and daughter's treatment include diet while insulin being the treatment method for son; Not found in normoglycemic Controls see PbGP.": PubMed [ID: 15305805]

Description

Converted during submission to Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	4	not provided	not provided		4	not provided	not provided	not provided
2	germline	yes	3	not provided	not provided		3	not provided	not provided	not provided
3	germline	unknown	not provided	Blood	assert pathogenicity		not provided	not provided	not provided	See 3

Co-occurrences

#	Zygosity	Alleles	Number of Observations
3	SingleHeterozygote	TCF1:c.1720A>G	1

Last Updated: May 1, 2024

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