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NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) AND Hematuria

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 6, 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:
RCV001328063.2

Allele description [Variation Report for NM_000092.5(COL4A4):c.81_86del (p.27IL[1])]

NM_000092.5(COL4A4):c.81_86del (p.27IL[1])

Gene:
COL4A4:collagen type IV alpha 4 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q36.3
Genomic location:
Preferred name:
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
Other names:
p.Ile29_Leu30del
HGVS:
  • NC_000002.12:g.227144546_227144551del
  • NG_011592.1:g.25011_25016del
  • NM_000092.5:c.81_86delMANE SELECT
  • NP_000083.3:p.27IL[1]
  • NP_000083.3:p.27_28IL[1]
  • LRG_231t1:c.81_86del
  • LRG_231:g.25011_25016del
  • LRG_231p1:p.27_28IL[1]
  • NC_000002.11:g.228009260_228009265del
  • NC_000002.11:g.228009262_228009267del
  • NM_000092.4:c.81_86del
  • NM_000092.4:c.81_86delACTCAT
  • NM_000092.5:c.81_86delACTCATMANE SELECT
Links:
dbSNP: rs771943519
NCBI 1000 Genomes Browser:
rs771943519
Molecular consequence:
  • NM_000092.5:c.81_86del - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

Condition(s)

Name:
Hematuria
Identifiers:
MedGen: C0018965; Human Phenotype Ontology: HP:0000790

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449251Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Likely pathogenic
(Sep 6, 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, SCV001449251.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This patient is heterozygous for a known variant, c.81_86del (p.Ile29_Leu30del), in the COL4A4 gene. This variant results in the in-frame deletion of two residues p.Ile29 and p.Leu30, and has been previously reported in trans with another COL4A4 pathogenic variant in two patients with Alport syndrome (Storey et al 2013 J Am Soc Nephrol 24:1945-54). Storey et al considered this variant to be pathogenic.

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

Last Updated: May 16, 2025