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

Clinical significance:Pathogenic (Last evaluated: Jun 30, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001536085.3

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
Name:
Type 2 diabetes mellitus
Synonyms:
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus
Identifiers:
MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978
Name:
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young (FRTS4)
Synonyms:
FRTS4 WITH MODY
Identifiers:
MONDO: MONDO:0014458; MedGen: C4014962; Orphanet: 93111; OMIM: 616026

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001752788Fulgent Genetics, Fulgent Geneticscriteria provided, single submitter
Pathogenic
(Jun 30, 2021)
unknownclinical testing

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

Description

This variant has been detected in individual(s) who were sent for testing of Renasight - kidney gene panel.

SCV001752788

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV001752788.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2022