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NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) AND Maturity-onset diabetes of the young type 1

Clinical significance:Pathogenic (Last evaluated: Oct 1, 1997)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

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Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000009792.7

Allele description [Variation Report for NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)]

NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)

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.340C>T (p.Arg114Trp)
Other names:
R127W
HGVS:
  • NC_000020.11:g.44413714C>T
  • NG_009818.1:g.62914C>T
  • NM_000457.6:c.406C>T
  • NM_001030003.3:c.340C>T
  • NM_001030004.3:c.340C>T
  • NM_001258355.2:c.385C>T
  • NM_001287182.2:c.331C>T
  • NM_001287183.2:c.331C>T
  • NM_001287184.2:c.331C>T
  • NM_175914.5:c.340C>TMANE SELECT
  • NM_178849.3:c.406C>T
  • NM_178850.3:c.406C>T
  • NP_000448.3:p.Arg136Trp
  • NP_000448.3:p.Arg136Trp
  • NP_001025174.1:p.Arg114Trp
  • NP_001025175.1:p.Arg114Trp
  • NP_001245284.1:p.Arg129Trp
  • NP_001274111.1:p.Arg111Trp
  • NP_001274112.1:p.Arg111Trp
  • NP_001274113.1:p.Arg111Trp
  • NP_787110.2:p.Arg114Trp
  • NP_787110.2:p.Arg114Trp
  • NP_849180.1:p.Arg136Trp
  • NP_849181.1:p.Arg136Trp
  • LRG_483t1:c.340C>T
  • LRG_483t2:c.406C>T
  • LRG_483:g.62914C>T
  • LRG_483p1:p.Arg114Trp
  • LRG_483p2:p.Arg136Trp
  • NC_000020.10:g.43042354C>T
  • NM_000457.4:c.406C>T
  • NM_175914.3:c.340C>T
  • NM_175914.4:c.340C>T
  • P41235:p.Arg136Trp
Protein change:
R111W; ARG127TRP
Links:
UniProtKB: P41235#VAR_004668; OMIM: 600281.0003; dbSNP: rs137853336
NCBI 1000 Genomes Browser:
rs137853336
Molecular consequence:
  • NM_000457.6:c.406C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001030003.3:c.340C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001030004.3:c.340C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258355.2:c.385C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287182.2:c.331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287183.2:c.331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287184.2:c.331C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175914.5:c.340C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178849.3:c.406C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178850.3:c.406C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Maturity-onset diabetes of the young type 1
Synonyms:
MILD JUVENILE DIABETES MELLITUS; MODY type 1; Diabetes mellitus MODY type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007452; MedGen: C1852093; Orphanet: 552; OMIM: 125850

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000030013OMIMno assertion criteria providedPathogenic
(Oct 1, 1997) 		germlineliterature only

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

Summary from all submissions

Help
EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY.

Furuta H, Iwasaki N, Oda N, Hinokio Y, Horikawa Y, Yamagata K, Yano N, Sugahiro J, Ogata M, Ohgawara H, Omori Y, Iwamoto Y, Bell GI.

Diabetes. 1997 Oct;46(10):1652-7.

PubMed [citation]
PMID:
9313765

Details of each submission

From OMIM, SCV000030013.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 3 of 5 members with MODY (125850) in 1 family, Furuta et al. (1997) identified an arg127-to-trp (R127W) mutation resulting from a transition from CGG to TGG. The mutation was located in the T-box, a region of the protein that may play a role in HNF-4-alpha dimerization and DNA binding. The findings in the family suggested that the R172W mutation was not the only cause of diabetes. The overall results suggested that mutations in the HNF4A gene may cause early onset NIDDM/MODY in Japanese but such mutations are less common than mutations in the HNF1A/MODY3 gene (142410).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2022