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NM_017807.4(OSGEP):c.550G>A (p.Ala184Thr) AND Galloway-Mowat syndrome 3

Germline classification:
Uncertain significance (1 submission)
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:
RCV001804209.1

Allele description [Variation Report for NM_017807.4(OSGEP):c.550G>A (p.Ala184Thr)]

NM_017807.4(OSGEP):c.550G>A (p.Ala184Thr)

Gene:
OSGEP:O-sialoglycoprotein endopeptidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_017807.4(OSGEP):c.550G>A (p.Ala184Thr)
HGVS:
  • NC_000014.9:g.20448971C>T
  • NM_017807.4:c.550G>AMANE SELECT
  • NP_060277.1:p.Ala184Thr
  • NC_000014.8:g.20917130C>T
  • NM_017807.3:c.550G>A
Protein change:
A184T
Links:
dbSNP: rs1217940902
NCBI 1000 Genomes Browser:
rs1217940902
Molecular consequence:
  • NM_017807.4:c.550G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002034316Institute of Human Genetics, Cologne University
no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics, Cologne University, SCV002034316.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023