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NM_033380.3(COL4A5):c.2201del (p.Gly734fs) AND Alport syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 29, 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:
RCV001328065.1

Allele description [Variation Report for NM_033380.3(COL4A5):c.2201del (p.Gly734fs)]

NM_033380.3(COL4A5):c.2201del (p.Gly734fs)

Gene:
COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_033380.3(COL4A5):c.2201del (p.Gly734fs)
HGVS:
  • NC_000023.11:g.108603018del
  • NG_011977.2:g.168095del
  • NM_000495.5:c.2201del
  • NM_033380.3:c.2201delMANE SELECT
  • NP_000486.1:p.Gly734fs
  • NP_203699.1:p.Gly734fs
  • LRG_232t1:c.2201del
  • LRG_232t2:c.2201del
  • LRG_232:g.168095del
  • LRG_232p1:p.Gly734fs
  • LRG_232p2:p.Gly734fs
  • NC_000023.10:g.107846248del
  • NG_011977.1:g.168095del
  • NM_000495.4:c.2201del
Protein change:
G734fs
Links:
dbSNP: rs2066663117
NCBI 1000 Genomes Browser:
rs2066663117
Molecular consequence:
  • NM_000495.5:c.2201del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033380.3:c.2201del - 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
SCV001449287Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Pathogenic
(May 29, 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, SCV001449287.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This patient is heterozygous for the c.2201del variant in the COL4A5 gene. This frameshifting variant is predicted to create a premature stop codon 2 positions downstream (p.Gly734Valfs*2), and may result in a null allele due to nonsense-mediated mRNA decay. To our knowledge, this variant has not been previously reported in the literature or any variant databases (i.e. ExAC, ESP or dbSNP). However, other truncating mutations downstream of this amino acid have been described in the ARUP Alport COL4A5 database (see http://www.arup.utah.edu/database/ALPORT/ALPORT_display.php). This variant is considered to be pathogenic according to the ACMG guidelines.

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

Last Updated: Jul 29, 2023