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NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe) AND Maturity onset diabetes mellitus in young

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 22, 2020
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:
RCV001248883.5

Allele description [Variation Report for NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)]

NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)

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.107C>T (p.Ser36Phe)
Other names:
NM_000458.4:c.107C>T
HGVS:
  • NC_000017.11:g.37744778G>A
  • NG_013019.2:g.5329C>T
  • NM_000458.4:c.107C>TMANE SELECT
  • NM_001165923.4:c.107C>T
  • NM_001304286.2:c.107C>T
  • NP_000449.1:p.Ser36Phe
  • NP_001159395.1:p.Ser36Phe
  • NP_001291215.1:p.Ser36Phe
  • NC_000017.10:g.36104769G>A
  • NC_000017.10:g.36104769G>A
  • NM_000458.3:c.107C>T
Protein change:
S36F
Links:
Molecular consequence:
  • NM_000458.4:c.107C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165923.4:c.107C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304286.2:c.107C>T - 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
SCV001422563Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 22, 2020) 		germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY.

Yoshiuchi I, Yamagata K, Zhu Q, Tamada I, Takahashi Y, Onigata K, Takeda J, Miyagawa J, Matsuzawa Y.

Diabetologia. 2002 Jan;45(1):154-5. No abstract available.

PubMed [citation]
PMID:
11845238

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 Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV001422563.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

The p.Ser36Phe variant in HNF1B has been reported in 3 Japanese individuals with MODY (PMID: 11845238), and has been identified in 0.2% (36/19922) of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs544890850). This variant has been seen in the general population at a frequency high enough to rule out a pathogenic role. In vitro functional studies provide some evidence that the p.Ser36Phe variant may slightly impact protein function (PMID: 11845238). However, these types of assays may not accurately represent biological function. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ser36Phe variant is uncertain. ACMG/AMP Criteria applied: BA1, PS3_supporting (Richards 2015).

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

Last Updated: Sep 29, 2024