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NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 5, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000519675.2

Allele description [Variation Report for NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp)]

NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp)

Gene:
COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp)
HGVS:
  • NC_000023.11:g.108575937G>T
  • NG_011977.2:g.141014G>T
  • NM_000495.5:c.574G>T
  • NM_033380.3:c.574G>TMANE SELECT
  • NP_000486.1:p.Gly192Trp
  • NP_203699.1:p.Gly192Trp
  • LRG_232t1:c.574G>T
  • LRG_232t2:c.574G>T
  • LRG_232:g.141014G>T
  • LRG_232p1:p.Gly192Trp
  • LRG_232p2:p.Gly192Trp
  • NC_000023.10:g.107819167G>T
  • NG_011977.1:g.141014G>T
  • NM_033380.1:c.574G>T
Protein change:
G192W
Links:
dbSNP: rs104886060
NCBI 1000 Genomes Browser:
rs104886060
Molecular consequence:
  • NM_000495.5:c.574G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033380.3:c.574G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000621486GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jun 5, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000621486.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Affects a glycine residue in a Gly-X-Y motif in the triple helical region of the COL4A5 gene, where the majority of pathogenic missense variants occur, and is predicted to disrupt normal protein folding and function (Stenson et al., 2014; Jais et al., 2000); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023