NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr) AND Galloway-Mowat syndrome 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 26, 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:: RCV000513079.1

Allele description [Variation Report for NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr)]

NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr)

Genes:

OSGEP:O-sialoglycoprotein endopeptidase [Gene - OMIM - HGNC]
LOC107372315:OSGEP/APEX1 bi-directional promoter region [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr)

HGVS:

NC_000014.9:g.20452053A>G
NG_008718.1:g.1923A>G
NG_046778.1:g.510A>G
NM_017807.4:c.332T>CMANE SELECT
NP_060277.1:p.Ile111Thr
NC_000014.8:g.20920212A>G
NM_017807.3:c.332T>C

Protein change:

I111T; ILE111THR

Links:

OMIM: 610107.0006; dbSNP: rs1443735811

NCBI 1000 Genomes Browser:

rs1443735811

Molecular consequence:

NM_017807.4:c.332T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Galloway-Mowat syndrome 3
Identifiers:: MONDO: MONDO:0033007; MedGen: C4540266; OMIM: 617729

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000609474	OMIM	no assertion criteria provided	Pathogenic (Oct 26, 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

SCV000609474

OMIM

no assertion criteria provided

Pathogenic
(Oct 26, 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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, et al.

Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.

PubMed [citation]

PMID:: 28805828
PMCID:: PMC5819591

Details of each submission

From OMIM, SCV000609474.1

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

Description

For discussion of the c.332T-C transition (c.332T-C, NM_017807.3) in exon 3 of the OSGEP gene, resulting in an ile111-to-thr (I111T) substitution that was found in compound heterozygous state in a patient (B83) with Galloway-Mowat syndrome-3 (GAMOS3; 617729) by Braun et al. (2017), see 610107.0002.

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

Last Updated: Oct 13, 2024

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