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

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001542735.3

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]

Condition(s)

Name:
Benign familial hematuria
Identifiers:
MONDO: MONDO:0957317; MedGen: C0241908; OMIM: PS141200

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001760076Genomics England Pilot Project, Genomics England
no assertion criteria provided

(ACGS Guidelines, 2016)		Likely pathogenicgermlineclinical 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 Genomics England Pilot Project, Genomics England, SCV001760076.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025