NM_033380.3(COL4A5):c.2722G>T (p.Gly908Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 29, 2016
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:
RCV000281811.1

Allele description [Variation Report for NM_033380.3(COL4A5):c.2722G>T (p.Gly908Ter)]

NM_033380.3(COL4A5):c.2722G>T (p.Gly908Ter)

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.2722G>T (p.Gly908Ter)
HGVS:
  • NC_000023.11:g.108621847G>T
  • NG_011977.1:g.186924G>T
  • NG_011977.2:g.186924G>T
  • NM_000495.5:c.2722G>T
  • NM_033380.3:c.2722G>TMANE SELECT
  • NP_000486.1:p.Gly908Ter
  • NP_203699.1:p.Gly908Ter
  • LRG_232t1:c.2722G>T
  • LRG_232t2:c.2722G>T
  • LRG_232:g.186924G>T
  • LRG_232p1:p.Gly908Ter
  • LRG_232p2:p.Gly908Ter
  • NC_000023.10:g.107865077G>T
  • NM_033380.1:c.2722G>T
Protein change:
G908*
Links:
dbSNP: rs281874703
NCBI 1000 Genomes Browser:
rs281874703
Molecular consequence:
  • NM_000495.5:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033380.3:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000330843GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Sep 29, 2016) 		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, SCV000330843.6

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

Description

The G908X nonsense variant in the COL4A5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider G908X to be pathogenic, and its presence consistent with a risk to develop features of Alport syndrome

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

Last Updated: Apr 23, 2022