NM_000545.8(HNF1A):c.811C>G (p.Arg271Gly) AND Maturity-onset diabetes of the young type 3

Germline classification:: Pathogenic (1 submission)
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:: RCV001818100.2

Allele description [Variation Report for NM_000545.8(HNF1A):c.811C>G (p.Arg271Gly)]

NM_000545.8(HNF1A):c.811C>G (p.Arg271Gly)

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.811C>G (p.Arg271Gly)

Other names:

NM_001306179.1:c.811C>G

HGVS:

NC_000012.12:g.120994261C>G
NG_011731.2:g.20516C>G
NM_000545.8:c.811C>GMANE SELECT
NM_001306179.2:c.811C>G
NP_000536.6:p.Arg271Gly
NP_001293108.2:p.Arg271Gly
LRG_522:g.20516C>G
NC_000012.11:g.121432064C>G
NM_000545.4:c.811C>G

Protein change:

R271G

Links:

dbSNP: rs886039386

NCBI 1000 Genomes Browser:

rs886039386

Molecular consequence:

NM_000545.8:c.811C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001306179.2:c.811C>G - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

variation affecting protein [Variation Ontology: 0002]

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
SCV002064261	Stone Lab, Washington University School of Medicine	no assertion criteria provided	Pathogenic	paternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002064261

Stone Lab, Washington University School of Medicine

no assertion criteria provided

Pathogenic

paternal

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
White	paternal	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Stone Lab, Washington University School of Medicine, SCV002064261.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	White	1	not provided	not provided	clinical testing	not provided

Description

Proband and her father were diagnosed with diabetes at age 13. The proband's father had history of being able to come off of insulin without severe hyperglycemia. Thus genetic testing revealed this variant in the HNF1A gene. The proband responded to sulfonylurea medication, and was weaned off of insulin. The pro band's father was confirmed to have the same missense variant in HNF1A with a similar diabetes history.

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

Last Updated: Dec 24, 2023

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