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

Recent activity

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30795[uid] AND (alive[prop]) (1)
Gene
Fkbp3 FK506 binding protein 3 [Mus musculus]
Fkbp3 FK506 binding protein 3 [Mus musculus]
Gene ID:30795

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002107013	Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics	no assertion criteria provided	Likely pathogenic (Nov 10, 2017)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002107013

Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics

no assertion criteria provided

Likely pathogenic
(Nov 10, 2017)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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