NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 20, 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:: RCV001869185.4

Allele description [Variation Report for NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln)]

NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln)

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.542G>A (p.Arg181Gln)

HGVS:

NC_000017.11:g.37739442C>T
NG_013019.2:g.10665G>A
NM_000458.4:c.542G>AMANE SELECT
NM_001165923.4:c.542G>A
NM_001304286.2:c.542G>A
NP_000449.1:p.Arg181Gln
NP_001159395.1:p.Arg181Gln
NP_001291215.1:p.Arg181Gln
NC_000017.10:g.36099433C>T
NM_000458.3:c.542G>A

Protein change:

R181Q

Links:

Molecular consequence:

NM_000458.4:c.542G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001165923.4:c.542G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001304286.2:c.542G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002120771	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 20, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24429398, 31604004, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002120771

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 20, 2022)

germline

clinical testing

PubMed (3)
[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

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Hwang DY, Dworschak GC, Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, Tasic V, Hildebrandt F.

Kidney Int. 2014 Jun;85(6):1429-33. doi: 10.1038/ki.2013.508. Epub 2014 Jan 15.

PubMed [citation]

PMID:: 24429398
PMCID:: PMC4040148

Next generation sequencing targeted gene panel in Greek MODY patients increases diagnostic accuracy.

Tatsi EB, Kanaka-Gantenbein C, Scorilas A, Chrousos GP, Sertedaki A.

Pediatr Diabetes. 2020 Feb;21(1):28-39. doi: 10.1111/pedi.12931. Epub 2019 Nov 10.

PubMed [citation]

PMID:: 31604004

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002120771.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). ClinVar contains an entry for this variant (Variation ID: 635672). This missense change has been observed in individual(s) with HNF1B-related conditions (PMID: 24429398, 31604004). This variant is present in population databases (rs776195231, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 181 of the HNF1B protein (p.Arg181Gln).

#	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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