NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser) AND Renal cysts and diabetes syndrome

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Uncertain significance(1) (Last evaluated: Jul 6, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000030537.2

Allele description [Variation Report for NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)]

NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)

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.962A>G (p.Asn321Ser)
HGVS:
  • NC_000017.11:g.37731678T>C
  • NG_013019.2:g.18429A>G
  • NM_000458.4:c.962A>GMANE SELECT
  • NM_001165923.4:c.884A>G
  • NM_001304286.2:c.884A>G
  • NP_000449.1:p.Asn321Ser
  • NP_001159395.1:p.Asn295Ser
  • NP_001291215.1:p.Asn295Ser
  • NC_000017.10:g.36091669T>C
  • NM_000458.2:c.962A>G
  • NM_000458.3:c.962A>G
Protein change:
N295S
Links:
Molecular consequence:
  • NM_000458.4:c.962A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165923.4:c.884A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304286.2:c.884A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000053208Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
likely pathogenic
(Aug 18, 2011)
germlinecuration, clinical testing

Citation Link,

SCV000926040Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnbergcriteria provided, single submitter
Uncertain significance
(Jul 6, 2019)
germlineliterature only

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

Description

This variant and it's classification has been reported by Vasileiou et al. 2019; DOI:10.1101/576918. The variants has previously been reported in ClinVar:36856 as "NM_000458.3(HNF1B):c.962A>G (p.Asn321Ser)" with clinical significance Likely pathogenic. It has been re-classified using InterVar and manual curation as Uncertain significance based on PM1 PP5.

SCV000926040

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only, curation
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000053208.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
2not providednot providednot providednot providedclinical testingnot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot providednot provided

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000926040.1

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

Last Updated: Aug 11, 2021

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