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NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) AND Maturity onset diabetes mellitus in young

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 20, 2018
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:
RCV002444693.2

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:
Maturity onset diabetes mellitus in young (MODY)
Synonyms:
Mason type diabetes
Identifiers:
MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002732084Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 20, 2018) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Ambry Genetics, SCV002732084.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Jun 23, 2024