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NM_014669.5(NUP93):c.1772G>T (p.Gly591Val) 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:
RCV001849346.1

Allele description [Variation Report for NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)]

NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)

Gene:
NUP93:nucleoporin 93 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)
HGVS:
  • NC_000016.10:g.56834768G>T
  • NG_052904.1:g.109664G>T
  • NM_001242795.2:c.1403G>T
  • NM_001242796.2:c.1403G>T
  • NM_014669.5:c.1772G>TMANE SELECT
  • NP_001229724.1:p.Gly468Val
  • NP_001229725.1:p.Gly468Val
  • NP_055484.3:p.Gly591Val
  • NC_000016.9:g.56868680G>T
  • NM_014669.4:c.1772G>T
  • Q8N1F7:p.Gly591Val
Protein change:
G468V; GLY591VAL
Links:
UniProtKB: Q8N1F7#VAR_076474; OMIM: 614351.0001; dbSNP: rs145473779
NCBI 1000 Genomes Browser:
rs145473779
Molecular consequence:
  • NM_001242795.2:c.1403G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242796.2:c.1403G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014669.5:c.1772G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002107013Yale 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, SCV002107013.1

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

Last Updated: Oct 20, 2024