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NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro) AND Renal cysts and diabetes syndrome

Germline classification:
Uncertain significance (2 submissions)
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:
RCV001823459.4

Allele description [Variation Report for NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro)]

NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro)

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.857T>C (p.Leu286Pro)
HGVS:
  • NC_000017.11:g.37731783A>G
  • NG_013019.2:g.18324T>C
  • NM_000458.4:c.857T>CMANE SELECT
  • NM_001165923.4:c.779T>C
  • NM_001304286.2:c.779T>C
  • NP_000449.1:p.Leu286Pro
  • NP_001159395.1:p.Leu260Pro
  • NP_001291215.1:p.Leu260Pro
  • NC_000017.10:g.36091774A>G
  • NM_000458.2:c.857T>C
  • NM_000458.3:c.[857T>C]
Protein change:
L260P
Links:
dbSNP: rs2147545592
NCBI 1000 Genomes Browser:
rs2147545592
Molecular consequence:
  • NM_000458.4:c.857T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165923.4:c.779T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304286.2:c.779T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Renal cysts and diabetes syndrome (RCAD)
Synonyms:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5; Familial hypoplastic, glomerulocystic kidney
Identifiers:
MONDO: MONDO:0007669; MedGen: C0431693; Orphanet: 93111; OMIM: 137920

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002072906Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002106572Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics
no assertion criteria provided
Likely pathogenic
(Jan 17, 2019) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing, literature only

Citations

PubMed

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

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.

Mann N, Braun DA, Amann K, Tan W, Shril S, Connaughton DM, Nakayama M, Schneider R, Kitzler TM, van der Ven AT, Chen J, Ityel H, Vivante A, Majmundar AJ, Daga A, Warejko JK, Lovric S, Ashraf S, Jobst-Schwan T, Widmeier E, Hugo H, Mane SM, et al.

J Am Soc Nephrol. 2019 Feb;30(2):201-215. doi: 10.1681/ASN.2018060575. Epub 2019 Jan 17.

PubMed [citation]
PMID:
30655312
PMCID:
PMC6362619

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV002072906.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The missense variant p.L286P in HNF1B (NM_000458.4) has not be reported previously as a pathogenic or a benign variant to the best of our knowledge.Another missense mutation affecting the same amino acid L286V has been previously reported to be disease causing (Alvelos et al). The p.L286P variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.L286P missense variant is predicted to be damaging by both SIFT and PolyPhen2. The leucine residue at codon 286 of HNF1B is conserved in all mammalian species. The nucleotide c.857 in HNF1B is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106572.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 16, 2025