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NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) AND HNF1B-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 16, 2024
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:
RCV003937545.1

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]

Condition(s)

Name:
HNF1B-related disorder
Synonyms:
HNF1B-related condition; HNF1B-related disorders
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004747536PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 16, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004747536.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The HNF1B c.244G>A variant is predicted to result in the amino acid substitution p.Asp82Asn. This variant has been reported in patients with HNF1B-related disease but its pathogenicity was not conclusive (Faguer et al. 2014. PubMed ID: 24897035; Brahm et al. 2016. PubMed ID: 27634015; Yu et al. 2019. PubMed ID: 31264968, supplementary table 6; Okorn et al. 2019. PubMed ID: 30666461; Kanda et al. 2016. PubMed ID: 26899772; Zuber et al. 2009. PubMed ID: 19639018). This variant is reported in 0.11% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Jun 17, 2024