NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 15, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000724384.3

Allele description [Variation Report for NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)]

NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)

Gene:
HNF1B:HNF1 homeobox B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
HGVS:
  • NC_000017.11:g.37744641C>T
  • NG_013019.2:g.5466G>A
  • NM_000458.4:c.244G>AMANE SELECT
  • NM_001165923.4:c.244G>A
  • NM_001304286.2:c.244G>A
  • NP_000449.1:p.Asp82Asn
  • NP_001159395.1:p.Asp82Asn
  • NP_001291215.1:p.Asp82Asn
  • NC_000017.10:g.36104632C>T
  • NM_000458.2:c.244G>A
  • NM_000458.3:c.244G>A
Protein change:
D82N
Links:
Molecular consequence:
  • NM_000458.4:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165923.4:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304286.2:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
9

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000224226EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Mar 15, 2018)
germlineclinical testing

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

Citation Link,

SCV001798926Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

SCV001824843GeneDxno assertion criteria provided
Uncertain significance
(Feb 12, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown9not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The HNF1B score is a simple tool to select patients for HNF1B gene analysis.

Faguer S, Chassaing N, Bandin F, Prouheze C, Garnier A, Casemayou A, Huart A, Schanstra JP, Calvas P, Decramer S, Chauveau D.

Kidney Int. 2014 Nov;86(5):1007-15. doi: 10.1038/ki.2014.202. Epub 2014 Jun 4. Review.

PubMed [citation]
PMID:
24897035

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000224226.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided9not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided9not providednot providednot provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001798926.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001824843.1

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

Description

Reported in unrelated patients in published literature, including one individual with hyperuricemia, bilateral renal cysts and dysplasia, and stage 1 chronic kidney disease (Okorn et al., 2019) and an individual whose clinical information was not provided (Yu et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32041611, 30666461, 31264968, 26899772, 27634015, 24897035, 19639018)

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

Last Updated: Sep 18, 2021

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