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

Clinical significance:Uncertain significance (Last evaluated: Jan 11, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001174365.1

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:
Monogenic diabetes
Identifiers:
MONDO: MONDO:0015967; MedGen: C3888631

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001337503Personalized Diabetes Medicine Program,University of Maryland School of Medicinecriteria provided, single submitter
Uncertain significance
(Jan 11, 2019)
unknownresearch

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot providednot providednot providedresearch

Citations

PubMed

HNF1B-related diabetes triggered by renal transplantation.

Zuber J, Bellanné-Chantelot C, Carette C, Canaud G, Gobrecht S, Gaha K, Mallet V, Martinez F, Thervet E, Timsit J, Legendre C, Dubois-Laforgue D.

Nat Rev Nephrol. 2009 Aug;5(8):480-4. doi: 10.1038/nrneph.2009.98.

PubMed [citation]
PMID:
19639018

New-onset diabetes after renal transplantation in a patient with a novel HNF1B mutation.

Kanda S, Morisada N, Kaneko N, Yabuuchi T, Nawashiro Y, Tada N, Nishiyama K, Miyai T, Sugawara N, Ishizuka K, Chikamoto H, Akioka Y, Iijima K, Hattori M.

Pediatr Transplant. 2016 May;20(3):467-71. doi: 10.1111/petr.12690. Epub 2016 Feb 21.

PubMed [citation]
PMID:
26899772
See all PubMed Citations (3)

Details of each submission

From Personalized Diabetes Medicine Program,University of Maryland School of Medicine, SCV001337503.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (3)

Description

ACMG criteria: PP3 (REVEL 0.890 + 7 predictors); PP4 (19639018, 26899772; variant also identified in patient in PMID: 24897035 (no clinical info, can't tell if overlap with other papers); BS2 (12 cases and 15 controls in T2Dgenes); BS1 (MAF in gnomAD EurNF population is 0.09%; 0.14% in ESP European pop)= scores as benign, but going to call as VUS given case reports and predictors (conflicting evidence).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 12, 2021

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