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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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002120771Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Aug 20, 2022)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024