NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe) AND Maturity onset diabetes mellitus in young

Germline classification:: no classifications from unflagged records (1 submission)
Last evaluated:: Jun 11, 2024
Review status:: no classifications from unflagged records

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:: RCV002464160.4

Allele description [Variation Report for NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe)]

NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe)

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.1207A>T (p.Ile403Phe)

HGVS:

NC_000017.11:g.37705049T>A
NG_013019.2:g.45058A>T
NM_000458.4:c.1207A>TMANE SELECT
NM_001165923.4:c.1129A>T
NM_001304286.2:c.1129A>T
NP_000449.1:p.Ile403Phe
NP_001159395.1:p.Ile377Phe
NP_001291215.1:p.Ile377Phe
NC_000017.10:g.36065056T>A
NM_000458.2:c.1207A>T

Protein change:

I377F

Links:

dbSNP: rs747110790

NCBI 1000 Genomes Browser:

rs747110790

Molecular consequence:

NM_000458.4:c.1207A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001165923.4:c.1129A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001304286.2:c.1129A>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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No clinical assertions found. See "Flagged submissions" below.

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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, SCV002675296.1

#	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 rs747110790 , 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

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002675296	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: Lab calls the variant likely risk allele but says "no sufficient evidence is found to ascertain the role of this particular variant". (K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)	Likely risk allele	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

SCV002675296

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

flagged submission

Reason: Outlier claim with insufficient supporting evidence

Notes: Lab calls the variant likely risk allele but says "no sufficient evidence is found to ascertain the role of this particular variant".

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

Likely risk allele

unknown

research

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

Citation Link

Last Updated: Nov 3, 2024

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