ClinVar Genomic variation as it relates to human health
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
Variation ID: 9212 Accession: VCV000009212.26
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 20q13.12 20: 44413714 (GRCh38) [ NCBI UCSC ] 20: 43042354 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Aug 22, 2016 Apr 20, 2024 Dec 2, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_175914.5:c.340C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_787110.2:p.Arg114Trp missense NM_000457.6:c.406C>T NP_000448.3:p.Arg136Trp missense NM_001030003.3:c.340C>T NP_001025174.1:p.Arg114Trp missense NM_001030004.3:c.340C>T NP_001025175.1:p.Arg114Trp missense NM_001258355.2:c.385C>T NP_001245284.1:p.Arg129Trp missense NM_001287182.2:c.331C>T NP_001274111.1:p.Arg111Trp missense NM_001287183.2:c.331C>T NP_001274112.1:p.Arg111Trp missense NM_001287184.2:c.331C>T NP_001274113.1:p.Arg111Trp missense NM_178849.3:c.406C>T NP_849180.1:p.Arg136Trp missense NM_178850.3:c.406C>T NP_849181.1:p.Arg136Trp missense NC_000020.11:g.44413714C>T NC_000020.10:g.43042354C>T NG_009818.1:g.62914C>T LRG_483:g.62914C>T LRG_483t1:c.340C>T LRG_483p1:p.Arg114Trp LRG_483t2:c.406C>T LRG_483p2:p.Arg136Trp P41235:p.Arg136Trp - Protein change
- R114W, R129W, R136W, R111W
- Other names
- R127W
- NM_175914.5(HNF4A):c.340C>T
- p.Arg114Trp
- Canonical SPDI
- NC_000020.11:44413713:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Exome Aggregation Consortium (ExAC) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00006
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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HNF4A | - | - |
GRCh38 GRCh37 |
555 | 567 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
no assertion criteria provided
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Oct 1, 1997 | RCV000009792.9 | |
Conflicting interpretations of pathogenicity (6) |
criteria provided, conflicting classifications
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Jan 2, 2024 | RCV000711955.22 | |
Uncertain significance (1) |
criteria provided, single submitter
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Apr 7, 2021 | RCV001375546.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Jun 30, 2021 | RCV001536085.5 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Mar 15, 2021 | RCV002453254.4 | |
Likely pathogenic (1) |
reviewed by expert panel
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Dec 2, 2023 | RCV003445066.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Likely pathogenic
(Dec 02, 2023)
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reviewed by expert panel
Method: curation
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Monogenic diabetes
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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ClinGen Monogenic Diabetes Variant Curation Expert Panel
Accession: SCV004174222.1
First in ClinVar: Dec 09, 2023 Last updated: Dec 09, 2023 |
Comment:
The c.340C>T variant in the hepatic nuclear factor 4-alpha gene, HNF4A, causes an amino acid change of arginine to tryptophan at codon 114 (p.(Arg114Trp)) of … (more)
The c.340C>T variant in the hepatic nuclear factor 4-alpha gene, HNF4A, causes an amino acid change of arginine to tryptophan at codon 114 (p.(Arg114Trp)) of NM_175914.5. This variant is predicted to be deleterious by computational evidence, with a REVEL score of 0.919, which is greater than the MDEP VCEP threshold of 0.70 (PP3). This variant has a Popmax Filtering allele frequency in gnomAD 2.1.1 of 0.000074, which is greater than the MDEP threshold for BS1 (0.000033) (BS1). This variant was identified in over 80 unrelated individuals with non-autoimmune and non-absolute/near-absolute insulin-deficient diabetes; however, PS4 cannot be applied because the variant MAF in gnomAD is above the ClinGen MDEP PM2_Supporting cutoff (PMID: 27486234, internal lab contributors). This variant was identified in an individual with a clinical history highly specific for HNF4A-MODY (MODY probability calculator result >50% and negative genetic testing for HNF1A) (PP4; internal lab contributors). This variant segregated with diabetes, with 31 informative meioses (PP1_Strong; internal lab contributors). This variant was identified in at least 3 nondiabetic individuals >70 years old, and the expected penetrance for HNF4A-monogenic diabetes is 95% by age 70 (BS2; PMID: 9313765. internal lab contributors) (BS2). This variant was identified in five individuals with an alternate molecular basis for disease, including two siblings with the HNF1A variant NM_000545.8:c872dup (p.Gly292fs*25) (BP5; PMID: 2351881, internal lab contributors). This variant has previously been considered to be pathogenic for a low penetrance form of MODY, and reporting has been of clinical utility for considering treatment with sulfonylureas, which have ~48% effectiveness in individuals with this variant (PMID: 27486234). In summary, c.340C>T meets phenotype, segregation, and computational criteria to be classified as likely pathogenic. While adding its population frequency, penetrance, and co-occurrence (which may have synergistic impact) criteria would lead to a likely benign classification, the MDEP consensus is that this should be considered a reportable likely pathogenic variant with reduced penetrance that may respond to sulfonylurea treatment. ACMG/AMP criteria applied, as specified by the ClinGen MDEP (specification version 2.0.0, approved 10/11/2023): BS1, BS2, PP1_Strong, BP5, PP3, PP4. (less)
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Uncertain significance
(Apr 07, 2021)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001572413.1
First in ClinVar: Apr 30, 2021 Last updated: Apr 30, 2021 |
Comment:
Variant summary: HNF4A c.340C>T (p.Arg114Trp) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging … (more)
Variant summary: HNF4A c.340C>T (p.Arg114Trp) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-05 in 250910 control chromosomes. The observed variant frequency is approximately 25 fold of the estimated maximal expected allele frequency for a pathogenic variant in HNF4A causing Maturity Onset Diabetes Of The Young 1/Neonatal Diabetes Mellitus phenotype (3.1e-06), strongly suggesting that the variant is benign. c.340C>T has been widely reported in the literature in individuals affected with Maturity Onset Diabetes Of The Young 1/Neonatal Diabetes Mellitus. In a cross sectional review of the literature supporting this variant, most reports provide contradictory or inconclusive evidence supporting a pathogenic outcome. In a Japanese family with this variant, 4 transmissions of the variant allele and 2 transmissions of the reference allele to affected individuals was reported. This family also contained two phenocopies diagnosed at age 11 and 36 as well as a heterozygote who was not diagnosed with diabetes until age 90 (Furuta_1997). Subsequently, this variant has been reported as a reduced penetrance variant with a distinct clinical phenotype that is different from that associated with HNF4A asssociated MODY (Laver_2016). It continues to be cited in the literature as a likely pathogenic variant citing questionable ascertainment criteria (Shi Park_2019). In contrast, another recent study evaluating the expressivity of putative disease causing variants in a population setting reports this variant as having a penetrance of less than 10% by the time an individual is 40 years old (Wright_2019). These data do not allow any conclusion about variant significance. At-least two co-occurrences with other pathogenic variant(s) have been reported ( HNF1A c.476G>A , p.R159Q; HNF1A c.872dup, p.Gly292fs), providing supporting evidence for a benign role (Laver_2016, Shankar_2013). Although one of these studies proposed a digenic role for this variant in the etiology of MODY (Shankar_2013). At least two publication reporting conflicting experimental evidence evaluating an impact on protein function were ascertained. One study reports 30%-50% of normal transactivation potential (Lausen_2000) while the other reports transactivation at levels identical to the wild-type control (Navas_1999). Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as pathogenic and the other classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly benign. (less)
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Likely pathogenic
(Feb 16, 2018)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV002070506.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
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Pathogenic
(Jun 20, 2018)
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criteria provided, single submitter
Method: clinical testing
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Maturity onset diabetes mellitus in young
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002612745.1
First in ClinVar: Nov 29, 2022 Last updated: Nov 29, 2022 |
Comment:
The p.R114W pathogenic mutation (also known as c.340C>T and R127W), located in coding exon 4 of the HNF4A gene, results from a C to T … (more)
The p.R114W pathogenic mutation (also known as c.340C>T and R127W), located in coding exon 4 of the HNF4A gene, results from a C to T substitution at nucleotide position 340. The arginine at codon 114 is replaced by tryptophan, an amino acid with dissimilar properties. This mutation was first reported in a Japanese maturity onset diabetes of the young (MODY) family (Furuta H et al. Diabetes, 1997 Oct;46:1652-7) and was subsequently reported in two Italian individuals with MODY (Delvecchio M et al. Diabetes Care, 2014 Dec;37:e258-60). This mutation has shown strong segregation with disease across multiple pedigrees; however, when compared to other mutations in HNF4A, reduced penetrance (54% vs. 71% by age 30), later age of onset (median 34 vs. 24, p=0.018), and decreased responsiveness to sulfonylurea treatment (48% vs. 73%, p = 0.038) were observed (Laver TW et al. Diabetes, 2016 Oct;65:3212-7). Although transactivation activity of this mutation was observed to be normal in one study (Navas MA et al. Diabetes, 1999 Jul;48:1459-65), additional studies using multiple conditions and additional cell lines have shown that DNA binding and transactivation ability is reduced by approximately 50% due to this mutation (Lausen J et al. Nucleic Acids Res., 2000 Jan;28:430-7; Yang Q et al. Diabetologia, 2000 Apr;43:520-4). Based on structural analysis, this alteration will disrupt proper dimerization of the receptor and DNA binding (Chandra V et al. Nature, 2013 Mar;495:394-8). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
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Uncertain significance
(Jun 05, 2023)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000617566.5
First in ClinVar: Dec 19, 2017 Last updated: Jun 17, 2023 |
Comment:
Identified in individuals with diabetes; however, variant has also been reported in individuals and family members without diabetes, and does not cosegregate with disease in … (more)
Identified in individuals with diabetes; however, variant has also been reported in individuals and family members without diabetes, and does not cosegregate with disease in some pedigrees (Furuta et al., 1997; Shankar et al., 2013; Flannick et al., 2013; Delvecchio et al., 2014; Laver et al., 2016); Published functional studies show wild-type target gene activation is retained, however, abnormal transcriptional activation and altered activity during indirect target gene regulation occurs (Rowley et al., 2006); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15830177, 29377200, 34662886, 11272211, 10819248, 11043869, 17407387, 25414397, 24097065, 23551881, 27486234, 10606640, 29207974, 10389854, 30665703, 29998026, 29734081, 31281738, 9313765, 30191644, 30977832, 27271189, 26287533, 32041611, 24843605, 15752752, 23485969, 16223942) (less)
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Pathogenic
(Mar 15, 2021)
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criteria provided, single submitter
Method: clinical testing
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Maturity onset diabetes mellitus in young
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV004848510.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
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Pathogenic
(Jun 30, 2021)
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criteria provided, single submitter
Method: clinical testing
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Maturity-onset diabetes of the young type 1
Type 2 diabetes mellitus Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV001752788.1
First in ClinVar: Jul 18, 2021 Last updated: Jul 18, 2021 |
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Pathogenic
(May 28, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Athena Diagnostics Inc
Accession: SCV000842366.3
First in ClinVar: Oct 20, 2018 Last updated: Sep 19, 2021 |
Comment:
This variant is statistically more frequent in affected individuals than in the general population and/or healthy controls which is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant … (more)
This variant is statistically more frequent in affected individuals than in the general population and/or healthy controls which is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been reported to be enriched in MODY patients with reduced penetrance in families (PMID: 27486234). This variant appears to segregate with disease in at least one family, however, the available information does not rule out segregation due to chance. This variant is also referred to as R127W in published literature. Assessment of experimental evidence suggests this variant results in abnormal protein function. This variant showed decreased transactivation potential and decreased DNA binding ability (PMID: 10606640, 10819248). Computational tools predict that this variant is damaging. (less)
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Likely pathogenic
(Jan 02, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV002141894.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 114 of the HNF4A protein … (more)
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 114 of the HNF4A protein (p.Arg114Trp). This variant is present in population databases (rs137853336, gnomAD 0.01%). This missense change has been observed in individuals with maturity onset diabetes of the young (PMID: 9313765, 11043869, 15830177, 25414397, 27486234, 29207974, 30977832; Invitae). It has also been observed to segregate with disease in related individuals. Of note, this variant has been observed to have reduced penetrance, with later average age of onset and decreased responsiveness to sulfonylurea treatment when compared to other HNF4A mutations (PMID: 27486234). This variant is also known as p.Arg127Trp or p.Arg136Trp. ClinVar contains an entry for this variant (Variation ID: 9212). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on HNF4A protein function. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on HNF4A function (PMID: 10389854, 10606640, 10819248, 16223942). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. (less)
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Pathogenic
(Oct 01, 1997)
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no assertion criteria provided
Method: literature only
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MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000030013.2
First in ClinVar: Apr 04, 2013 Last updated: Aug 22, 2016 |
Comment on evidence:
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 … (more)
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). (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, Amsterdam University Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV002035289.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV002035521.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Identifying Pathogenic Variants of Monogenic Diabetes Using Targeted Panel Sequencing in an East Asian Population. | Park SS | The Journal of clinical endocrinology and metabolism | 2019 | PMID: 30977832 |
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. | Wright CF | American journal of human genetics | 2019 | PMID: 30665703 |
Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort. | Johnson SR | Pediatric diabetes | 2019 | PMID: 30191644 |
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. | Bansal V | BMC medicine | 2017 | PMID: 29207974 |
Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes. | Flannick J | Nature reviews. Endocrinology | 2016 | PMID: 27080136 |
Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital. | Delvecchio M | Diabetes care | 2014 | PMID: 25414397 |
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. | Flannick J | Nature genetics | 2013 | PMID: 24097065 |
Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes. | Shankar RK | Pediatric diabetes | 2013 | PMID: 23551881 |
Multidomain integration in the structure of the HNF-4α nuclear receptor complex. | Chandra V | Nature | 2013 | PMID: 23485969 |
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. | Pearson ER | PLoS medicine | 2007 | PMID: 17407387 |
Mechanisms of mutual functional interactions between HNF-4alpha and HNF-1alpha revealed by mutations that cause maturity onset diabetes of the young. | Rowley CW | American journal of physiology. Gastrointestinal and liver physiology | 2006 | PMID: 16223942 |
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. | Pearson ER | Diabetologia | 2005 | PMID: 15830177 |
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. | Frayling TM | Diabetes | 2001 | PMID: 11272211 |
R127W in HNF4alpha is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family. | Bulman MP | Diabetologia | 2000 | PMID: 11043869 |
R127W-HNF-4alpha is a loss of function mutation but not a rare polymorphism and causes Type II diabetes in a Japanese family with MODY1. | Yang Q | Diabetologia | 2000 | PMID: 10819248 |
Naturally occurring mutations in the human HNF4alpha gene impair the function of the transcription factor to a varying degree. | Lausen J | Nucleic acids research | 2000 | PMID: 10606640 |
Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q). | Navas MA | Diabetes | 1999 | PMID: 10389854 |
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 | Diabetes | 1997 | PMID: 9313765 |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/02499413-8829-40ca-9b18-1aac047aba80 | - | - | - | - |
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Text-mined citations for rs137853336 ...
HelpRecord last updated Apr 20, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.