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NM_175914.5(HNF4A):c.50-5C>T AND Hyperinsulinism, Dominant

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000268875.6

Allele description [Variation Report for NM_175914.5(HNF4A):c.50-5C>T]

NM_175914.5(HNF4A):c.50-5C>T

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.50-5C>T
HGVS:
  • NC_000020.11:g.44406053C>T
  • NG_009818.1:g.55253C>T
  • NM_000457.6:c.116-5C>T
  • NM_001030003.3:c.50-5C>T
  • NM_001030004.3:c.50-5C>T
  • NM_001258355.2:c.95-5C>T
  • NM_001287182.2:c.41-5C>T
  • NM_001287183.2:c.41-5C>T
  • NM_001287184.2:c.41-5C>T
  • NM_175914.5:c.50-5C>TMANE SELECT
  • NM_178849.3:c.116-5C>T
  • NM_178850.3:c.116-5C>T
  • LRG_483t1:c.50-5C>T
  • LRG_483t2:c.116-5C>T
  • LRG_483:g.55253C>T
  • NC_000020.10:g.43034693C>T
  • NM_000457.4:c.116-5C>T
  • NM_175914.3:c.50-5C>T
  • NM_175914.4:c.50-5C>T
Links:
dbSNP: rs745975
NCBI 1000 Genomes Browser:
rs745975
Molecular consequence:
  • NM_000457.6:c.116-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001030003.3:c.50-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001030004.3:c.50-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258355.2:c.95-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001287182.2:c.41-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001287183.2:c.41-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001287184.2:c.41-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_175914.5:c.50-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_178849.3:c.116-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_178850.3:c.116-5C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hyperinsulinism, Dominant
Identifiers:
MedGen: CN239341

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000433883Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

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

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutations in the hepatocyte nuclear factor-4alpha gene in Japanese with non-insulin-dependent diabetes: a nucleotide substitution in the polypyrimidine tract of intron 1b.

Sakurai K, Seki N, Fujii R, Yagui K, Tokuyama Y, Shimada F, Makino H, Suzuki Y, Hashimoto N, Saito Y, Egashira T, Matsui K, Kanatsuka A.

Horm Metab Res. 2000 Aug;32(8):316-20.

PubMed [citation]
PMID:
10983627

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000433883.2

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

Last Updated: Sep 29, 2024