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NM_033380.3(COL4A5):c.4376dup (p.Gly1460fs) AND Alport syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 24, 2018
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:
RCV001328193.1

Allele description [Variation Report for NM_033380.3(COL4A5):c.4376dup (p.Gly1460fs)]

NM_033380.3(COL4A5):c.4376dup (p.Gly1460fs)

Gene:
COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_033380.3(COL4A5):c.4376dup (p.Gly1460fs)
HGVS:
  • NC_000023.11:g.108687542dup
  • NG_011977.2:g.252619dup
  • NM_000495.5:c.4358dup
  • NM_033380.3:c.4376dupMANE SELECT
  • NP_000486.1:p.Gly1454fs
  • NP_203699.1:p.Gly1460fs
  • LRG_232t1:c.4358dup
  • LRG_232t2:c.4376dup
  • LRG_232:g.252619dup
  • LRG_232p1:p.Gly1454fs
  • LRG_232p2:p.Gly1460fs
  • NC_000023.10:g.107930772dup
  • NG_011977.1:g.252619dup
  • NM_033380.2:c.4376dup
Protein change:
G1454fs
Links:
dbSNP: rs2068571470
NCBI 1000 Genomes Browser:
rs2068571470
Molecular consequence:
  • NM_000495.5:c.4358dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033380.3:c.4376dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Alport syndrome
Synonyms:
Hemorrhagic familial nephritis; Hemorrhagic hereditary nephritis; Congenital hereditary hematuria
Identifiers:
MONDO: MONDO:0018965; MedGen: C1567741; OMIM: PS301050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449273Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Pathogenic
(Oct 24, 2018) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sydney Genome Diagnostics, Children's Hospital Westmead, SCV001449273.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This patient is hemizygous for the c.4358dup variant in the COL4A5 gene. This frameshifting variant is predicted to create a premature stop codon downstream p.(Gly1454Trpfs*32), and may result in a null allele due to nonsense-mediated mRNA decay. To our knowledge, this variant has not been previously reported. However, other nonsense mutations downstream have been described in the COL4A5 Alport Syndrome database (see http://www.arup.utah.edu/database/alport/alport_welcome.php) suggesting that the variant is likely to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 29, 2023