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NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) AND Nephrotic syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 10, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001849331.1

Allele description [Variation Report for NM_032856.5(WDR73):c.703C>T (p.Gln235Ter)]

NM_032856.5(WDR73):c.703C>T (p.Gln235Ter)

Gene:
WDR73:WD repeat domain 73 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q25.2
Genomic location:
Preferred name:
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter)
HGVS:
  • NC_000015.10:g.84645651G>A
  • NG_042034.1:g.13693C>T
  • NM_032856.5:c.703C>TMANE SELECT
  • NP_116245.2:p.Gln235Ter
  • NC_000015.9:g.85188882G>A
  • NM_032856.2:c.703C>T
  • NM_032856.3:c.703C>T
  • NR_130944.2:n.1246C>T
  • NR_130945.2:n.825C>T
  • NR_130946.2:n.719C>T
  • NR_130947.2:n.623C>T
Protein change:
Q235*; GLN235TER
Links:
OMIM: 616144.0003; dbSNP: rs797044992
NCBI 1000 Genomes Browser:
rs797044992
Molecular consequence:
  • NR_130944.2:n.1246C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_130945.2:n.825C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_130946.2:n.719C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_130947.2:n.623C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_032856.5:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Nephrotic syndrome
Identifiers:
MONDO: MONDO:0005377; MedGen: C0027726; Human Phenotype Ontology: HP:0000100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002107063Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics
no assertion criteria provided
Likely pathogenic
(Nov 10, 2017) 		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 providedliterature only

Citations

PubMed

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, et al.

Clin J Am Soc Nephrol. 2018 Jan 6;13(1):53-62. doi: 10.2215/CJN.04120417. Epub 2017 Nov 10.

PubMed [citation]
PMID:
29127259
PMCID:
PMC5753307

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002107063.1

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

Last Updated: Aug 5, 2023