NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln) AND Maturity onset diabetes mellitus in young

Germline classification:: Uncertain risk allele (1 submission)
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:: RCV003148944.1

Allele description [Variation Report for NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln)]

NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln)

Gene:

HNF4A:hepatocyte nuclear factor 4 alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

Preferred name:

NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln)

HGVS:

NC_000020.11:g.44413715G>A
NG_009818.1:g.62915G>A
NM_000457.6:c.407G>A
NM_001030003.3:c.341G>A
NM_001030004.3:c.341G>A
NM_001258355.2:c.386G>A
NM_001287182.2:c.332G>A
NM_001287183.2:c.332G>A
NM_001287184.2:c.332G>A
NM_175914.5:c.341G>AMANE SELECT
NM_178849.3:c.407G>A
NM_178850.3:c.407G>A
NP_000448.3:p.Arg136Gln
NP_001025174.1:p.Arg114Gln
NP_001025175.1:p.Arg114Gln
NP_001245284.1:p.Arg129Gln
NP_001274111.1:p.Arg111Gln
NP_001274112.1:p.Arg111Gln
NP_001274113.1:p.Arg111Gln
NP_787110.2:p.Arg114Gln
NP_849180.1:p.Arg136Gln
NP_849181.1:p.Arg136Gln
LRG_483t2:c.407G>A
LRG_483:g.62915G>A
NC_000020.10:g.43042355G>A
NC_000020.10:g.43042355G>A
NM_000457.4:c.407G>A
NM_000457.5:c.407G>A

Protein change:

R111Q

Links:

dbSNP: rs149611886

NCBI 1000 Genomes Browser:

rs149611886

Molecular consequence:

NM_000457.6:c.407G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001030003.3:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001030004.3:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258355.2:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001287182.2:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001287183.2:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001287184.2:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_175914.5:c.341G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_178849.3:c.407G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_178850.3:c.407G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003804621	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)	Uncertain risk allele	unknown	research	PubMed (5) [See all records that cite these PMIDs] 18268044, 17563455, 32583173, 35052457, 35118593 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003804621

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)

Uncertain risk allele

unknown

research

PubMed (5)
[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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.

Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, Ellard S, Hussain K.

Diabetes. 2008 Jun;57(6):1659-63. doi: 10.2337/db07-1657. Epub 2008 Feb 11.

PubMed [citation]

PMID:: 18268044

HNF4A genetic variants: role in diabetes.

Love-Gregory L, Permutt MA.

Curr Opin Clin Nutr Metab Care. 2007 Jul;10(4):397-402. Review.

PubMed [citation]

PMID:: 17563455

See all PubMed Citations (5)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV003804621.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	PubMed (5)

Description

Potent mutations in HNF4A are associated with poor insulin secretion in response to hyperglycemia. Associated with MODY1. Patients initially respond well to sulfonylureas but eventually become insulin dependent. However, more evidence is required to ascertain the role of this particular variant rs149611886 in MODY, yet.

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

Last Updated: Sep 29, 2024

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