NM_175914.4(HNF4A):c.439G>A (p.Val147Ile) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Uncertain significance(1) (Last evaluated: Feb 13, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_175914.4(HNF4A):c.439G>A (p.Val147Ile)]

NM_175914.4(HNF4A):c.439G>A (p.Val147Ile)

HNF4A:hepatocyte nuclear factor 4 alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_175914.4(HNF4A):c.439G>A (p.Val147Ile)
  • NC_000020.11:g.44414519G>A
  • NG_009818.1:g.63719G>A
  • NM_000457.4:c.505G>A
  • NM_001030003.3:c.439G>A
  • NM_001030004.3:c.439G>A
  • NM_001258355.2:c.484G>A
  • NM_001287182.2:c.430G>A
  • NM_001287183.1:c.430G>A
  • NM_001287184.2:c.430G>A
  • NM_175914.4:c.439G>A
  • NM_178849.3:c.505G>A
  • NM_178850.3:c.505G>A
  • NP_000448.3:p.Val169Ile
  • NP_001025174.1:p.Val147Ile
  • NP_001025175.1:p.Val147Ile
  • NP_001245284.1:p.Val162Ile
  • NP_001274111.1:p.Val144Ile
  • NP_001274112.1:p.Val144Ile
  • NP_001274113.1:p.Val144Ile
  • NP_787110.2:p.Val147Ile
  • NP_849180.1:p.Val169Ile
  • NP_849181.1:p.Val169Ile
  • LRG_483t1:c.439G>A
  • LRG_483t2:c.505G>A
  • LRG_483t3:c.430G>A
  • LRG_483:g.63719G>A
  • LRG_483p1:p.Val147Ile
  • LRG_483p2:p.Val169Ile
  • LRG_483p3:p.Val144Ile
  • NC_000020.10:g.43043159G>A
  • NM_000457.3:c.505G>A
  • NM_175914.3:c.439G>A
  • p.VAL169ILE
Protein change:
dbSNP: rs142204928
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000457.4:c.505G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001030003.3:c.439G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001030004.3:c.439G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258355.2:c.484G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287182.2:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287183.1:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287184.2:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175914.4:c.439G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178849.3:c.505G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_178850.3:c.505G>A - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000151412Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Uncertain significance
(Nov 4, 2013)
germlineclinical testing

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

SCV001753226GeneDxcriteria provided, single submitter
(Feb 13, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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



ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000151412.1

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

From GeneDx, SCV001753226.1

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


This variant is associated with the following publications: (PMID: 32621647, 31216263, 25041077, 27080136, 27535533, 27810688, 15281001, 24097065)

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

Last Updated: Aug 17, 2021

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