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NM_175914.5(HNF4A):c.926G>A (p.Arg309His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 3, 2017
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:
RCV000483537.1

Allele description [Variation Report for NM_175914.5(HNF4A):c.926G>A (p.Arg309His)]

NM_175914.5(HNF4A):c.926G>A (p.Arg309His)

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.926G>A (p.Arg309His)
Other names:
NM_175914.5(HNF4A):c.926G>A; p.Arg309His
HGVS:
  • NC_000020.11:g.44424117G>A
  • NG_009818.1:g.73317G>A
  • NM_000457.6:c.992G>A
  • NM_001030003.3:c.926G>A
  • NM_001030004.3:c.926G>A
  • NM_001258355.2:c.971G>A
  • NM_001287182.2:c.917G>A
  • NM_001287183.2:c.917G>A
  • NM_001287184.2:c.917G>A
  • NM_175914.5:c.926G>AMANE SELECT
  • NM_178849.3:c.992G>A
  • NM_178850.3:c.992G>A
  • NP_000448.3:p.Arg331His
  • NP_001025174.1:p.Arg309His
  • NP_001025175.1:p.Arg309His
  • NP_001245284.1:p.Arg324His
  • NP_001274111.1:p.Arg306His
  • NP_001274112.1:p.Arg306His
  • NP_001274113.1:p.Arg306His
  • NP_787110.2:p.Arg309His
  • NP_849180.1:p.Arg331His
  • NP_849181.1:p.Arg331His
  • LRG_483t1:c.926G>A
  • LRG_483:g.73317G>A
  • NC_000020.10:g.43052757G>A
  • NM_175914.3:c.926G>A
  • NM_175914.4:c.926G>A
Protein change:
R306H
Links:
dbSNP: rs369429452
NCBI 1000 Genomes Browser:
rs369429452
Molecular consequence:
  • NM_000457.6:c.992G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001030003.3:c.926G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001030004.3:c.926G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258355.2:c.971G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287182.2:c.917G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287183.2:c.917G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287184.2:c.917G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175914.5:c.926G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178849.3:c.992G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178850.3:c.992G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000574422GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Apr 3, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000574422.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The R309H variant in the HNF4A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R309H variant is observed in 1/62866 (0.002%) alleles from individuals of European background, in large population cohorts the ExAC dataset (Lek et al., 2016). The R309H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R309H as a variant of uncertain significance.

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

Last Updated: Sep 16, 2024