NM_000458.4(HNF1B):c.25C>T (p.Gln9Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 13, 2022
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:: RCV003073271.3

Allele description [Variation Report for NM_000458.4(HNF1B):c.25C>T (p.Gln9Ter)]

NM_000458.4(HNF1B):c.25C>T (p.Gln9Ter)

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.25C>T (p.Gln9Ter)

HGVS:

NC_000017.11:g.37744860G>A
NG_013019.2:g.5247C>T
NM_000458.4:c.25C>TMANE SELECT
NM_001165923.4:c.25C>T
NM_001304286.2:c.25C>T
NM_001411100.1:c.25C>T
NP_000449.1:p.Gln9Ter
NP_001159395.1:p.Gln9Ter
NP_001291215.1:p.Gln9Ter
NP_001398029.1:p.Gln9Ter
NC_000017.10:g.36104851G>A

Protein change:

Q9*

Molecular consequence:

NM_000458.4:c.25C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001165923.4:c.25C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001304286.2:c.25C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001411100.1:c.25C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003477532	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jun 13, 2022)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 9398836, 12148114, 15068978, 20378641, 31980526, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003477532

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jun 13, 2022)

germline

clinical testing

PubMed (6)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI.

Nat Genet. 1997 Dec;17(4):384-5. No abstract available.

PubMed [citation]

PMID:: 9398836

Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement.

Montoli A, Colussi G, Massa O, Caccia R, Rizzoni G, Civati G, Barbetti F.

Am J Kidney Dis. 2002 Aug;40(2):397-402. Review.

PubMed [citation]

PMID:: 12148114

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003477532.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Gln9*) in the HNF1B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HNF1B are known to be pathogenic (PMID: 9398836, 12148114, 15068978, 20378641). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with renal cysts and diabetes syndrome (PMID: 31980526).

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

Last Updated: Sep 29, 2024

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