NM_175914.5(HNF4A):c.50-5C>T AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (3 submissions)
Last evaluated:: Jan 31, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000710147.12

Allele description

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000613648	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Jul 12, 2017)	germline	clinical testing	PubMed (9) [See all records that cite these PMIDs] 15793260, 16883527, 16946562, 17573900, 18811724, 9267996, 9313765, 9449683, 26467025
SCV001725049	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 31, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001864384	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Mar 3, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000613648

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Jul 12, 2017)

germline

clinical testing

PubMed (9)
[See all records that cite these PMIDs]

SCV001725049

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 31, 2024)

germline

clinical testing

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

SCV001864384

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Mar 3, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genetic analysis of HNF4A polymorphisms in Caucasian-American type 2 diabetes.

Bagwell AM, Bento JL, Mychaleckyj JC, Freedman BI, Langefeld CD, Bowden DW.

Diabetes. 2005 Apr;54(4):1185-90.

PubMed [citation]

PMID:: 15793260

[Scanning the HNF4A gene mutation from Chinese pedigrees with early- and/or multiple-onset diabetes].

Zhang R, Hu C, Wang CR, Fang QC, Ma XJ, Jia WP, Xiang KS.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Aug;23(4):406-9. Chinese.

PubMed [citation]

PMID:: 16883527

See all PubMed Citations (10)

Details of each submission

From Athena Diagnostics, SCV000613648.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

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

From Invitae, SCV001725049.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

From GeneDx, SCV001864384.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is associated with the following publications: (PMID: 10983627, 25266181)

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

Last Updated: Jun 23, 2024

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