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NM_000092.5(COL4A4):c.1785dup (p.Gly596fs) AND Autosomal recessive Alport syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 15, 2022
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:
RCV002307751.2

Allele description [Variation Report for NM_000092.5(COL4A4):c.1785dup (p.Gly596fs)]

NM_000092.5(COL4A4):c.1785dup (p.Gly596fs)

Gene:
COL4A4:collagen type IV alpha 4 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q36.3
Genomic location:
Preferred name:
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs)
HGVS:
  • NC_000002.12:g.227080465dup
  • NG_011592.1:g.89099dup
  • NM_000092.5:c.1785dupMANE SELECT
  • NP_000083.3:p.Gly596fs
  • LRG_231t1:c.1785dup
  • LRG_231:g.89099dup
  • NC_000002.11:g.227945176_227945177insT
  • NC_000002.11:g.227945181dup
  • NM_000092.4:c.1785dup
Protein change:
G596fs
Links:
dbSNP: rs2150505385
NCBI 1000 Genomes Browser:
rs2150505385
Molecular consequence:
  • NM_000092.5:c.1785dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autosomal recessive Alport syndrome (ATS2)
Synonyms:
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; COL4A4 Alport Syndrome and Thin Basement Membrane Nephropathy
Identifiers:
MONDO: MONDO:0008762; MedGen: C4746745; Orphanet: 63; Orphanet: 88919; OMIM: 203780

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002604563Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Mar 15, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Genetics, Inc., SCV002604563.2

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

Description

NM_000092.4(COL4A4):c.1785dupA(G596Rfs*10) is expected to be pathogenic in the context of COL4A4-related Alport syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in COL4A4, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: May 16, 2025