NM_000458.4(HNF1B):c.353del (p.Pro118fs) AND Renal cysts and diabetes syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 6, 2019
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:: RCV000787224.3

Allele description [Variation Report for NM_000458.4(HNF1B):c.353del (p.Pro118fs)]

NM_000458.4(HNF1B):c.353del (p.Pro118fs)

Gene:

HNF1B:HNF1 homeobox B [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_000458.4(HNF1B):c.353del (p.Pro118fs)

HGVS:

NC_000017.11:g.37739633del
NG_013019.2:g.10476del
NM_000458.4:c.353delMANE SELECT
NM_001165923.4:c.353del
NM_001304286.2:c.353del
NP_000449.1:p.Pro118fs
NP_001159395.1:p.Pro118fs
NP_001291215.1:p.Pro118fs
NC_000017.10:g.36099624del
NM_000458.3:c.353del

Protein change:

P118fs

Links:

Molecular consequence:

NM_000458.4:c.353del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001165923.4:c.353del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001304286.2:c.353del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Renal cysts and diabetes syndrome (RCAD)
Synonyms:: Maturity-onset diabetes of the young, type 5; MODY type 5; Hyperuricemic nephropathy, familial juvenile, atypical; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007669; MedGen: C0431693; Orphanet: 93111; OMIM: 137920

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000926154	Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 6, 2019)	germline	literature only	PubMed (4) [See all records that cite these PMIDs] 25700310, 20543213, 25536396, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000926154

Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 6, 2019)

germline

literature only

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.

Alvelos MI, Rodrigues M, Lobo L, Medeira A, Sousa AB, Simão C, Lemos MC.

Medicine (Baltimore). 2015 Feb;94(7):e469. doi: 10.1097/MD.0000000000000469.

PubMed [citation]

PMID:: 25700310
PMCID:: PMC4554182

Growth hormone therapy-related hyperglycaemia in a boy with renal cystic hypodysplasia and a new mutation of the HNF1 beta gene.

Giglio S, Contini E, Toni S, Pela I.

Nephrol Dial Transplant. 2010 Sep;25(9):3116-9. doi: 10.1093/ndt/gfq315. Epub 2010 Jun 13.

PubMed [citation]

PMID:: 20543213

See all PubMed Citations (4)

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000926154.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

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

Last Updated: Jun 23, 2024

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