NM_000458.4(HNF1B):c.241G>T (p.Glu81Ter) AND Maturity onset diabetes mellitus in young

Germline classification:: Pathogenic (1 submission)
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:: RCV002465859.1

Allele description [Variation Report for NM_000458.4(HNF1B):c.241G>T (p.Glu81Ter)]

NM_000458.4(HNF1B):c.241G>T (p.Glu81Ter)

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.241G>T (p.Glu81Ter)

HGVS:

NC_000017.11:g.37744644C>A
NG_013019.2:g.5463G>T
NM_000458.4:c.241G>TMANE SELECT
NM_001165923.4:c.241G>T
NM_001304286.2:c.241G>T
NP_000449.1:p.Glu81Ter
NP_001159395.1:p.Glu81Ter
NP_001291215.1:p.Glu81Ter
NC_000017.10:g.36104635C>A

Protein change:

E81*

Links:

dbSNP: rs2034113963

NCBI 1000 Genomes Browser:

rs2034113963

Molecular consequence:

NM_000458.4:c.241G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001165923.4:c.241G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001304286.2:c.241G>T - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

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CBSW2913.g1 NICHD_XGC_tropTail_m Xenopus tropicalis cDNA clone IMAGE:8904660 3',...
CBSW2913.g1 NICHD_XGC_tropTail_m Xenopus tropicalis cDNA clone IMAGE:8904660 3', mRNA sequence
gi|133758199|gnl|dbEST|45191394|gb| 454.1|

Nucleotide
AGENCOURT_74296725 NICHD_XGC_tail_m Xenopus laevis cDNA clone IMAGE:8544242 5', ...
AGENCOURT_74296725 NICHD_XGC_tail_m Xenopus laevis cDNA clone IMAGE:8544242 5', mRNA sequence
gi|92072483|gnl|dbEST|38002760|gb|E 54.1|

Nucleotide
AGENCOURT_74308632 NICHD_XGC_tail_m Xenopus laevis cDNA clone IMAGE:8545274 5', ...
AGENCOURT_74308632 NICHD_XGC_tail_m Xenopus laevis cDNA clone IMAGE:8545274 5', mRNA sequence
gi|92076473|gnl|dbEST|38006871|gb|E 43.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002754407	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)	Pathogenic	unknown	research	PubMed (8) [See all records that cite these PMIDs] 24897035, 25536396, 27615128, 28215227, 33434175, 25741167, 26340261, 19639018 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002754407

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)

Pathogenic

unknown

research

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	research

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

HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C.

Nat Rev Nephrol. 2015 Feb;11(2):102-12. doi: 10.1038/nrneph.2014.232. Epub 2014 Dec 23. Review.

PubMed [citation]

PMID:: 25536396

See all PubMed Citations (8)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002754407.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	PubMed (8)

Description

HNF1B gene mutations are associated with early onset diabetes and pancreatic atrophy. It is also associated with multiple renal manifestations including renal cysts, Tubulointerstitial disease, glomerulocystic disease, renal hypoplasia, hypomagnesemia. However no sufficient evidence is found to ascertain the role of this particular variant rs2034113963, yet.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 29, 2023

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