NM_000458.4(HNF1B):c.1138del (p.Val380fs) 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:: RCV000787089.2

Allele description [Variation Report for NM_000458.4(HNF1B):c.1138del (p.Val380fs)]

NM_000458.4(HNF1B):c.1138del (p.Val380fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_000458.4(HNF1B):c.1138del (p.Val380fs)

HGVS:

NC_000017.11:g.37710572del
NG_013019.2:g.39536del
NM_000458.4:c.1138delMANE SELECT
NM_001165923.4:c.1060del
NM_001304286.2:c.1060del
NP_000449.1:p.Val380fs
NP_001159395.1:p.Val354fs
NP_001291215.1:p.Val354fs
NC_000017.10:g.36070580del
NM_000458.3:c.1138del

Protein change:

V354fs

Links:

Molecular consequence:

NM_000458.4:c.1138del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001165923.4:c.1060del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001304286.2:c.1060del - 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
SCV000926016	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 (2) [See all records that cite these PMIDs] 27234567, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000926016

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 (2)
[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

Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.

Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L, Waller S, Bowman P, Ford T, Ellard S, Hattersley AT, Bingham C.

Kidney Int. 2016 Jul;90(1):203-11. doi: 10.1016/j.kint.2016.03.027. Epub 2016 May 24.

PubMed [citation]

PMID:: 27234567
PMCID:: PMC4915913

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 Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000926016.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	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: May 7, 2024

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