NM_000092.5(COL4A4):c.1785dup (p.Gly596fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 17, 2023
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:: RCV003688941.3

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)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004435644	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 17, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 21196518, 24854265, 25307543, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004435644

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 17, 2023)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Rapid identification of a disease allele in mouse through whole genome sequencing and bulk segregation analysis.

Arnold CN, Xia Y, Lin P, Ross C, Schwander M, Smart NG, Müller U, Beutler B.

Genetics. 2011 Mar;187(3):633-41. doi: 10.1534/genetics.110.124586. Epub 2010 Dec 31.

PubMed [citation]

PMID:: 21196518
PMCID:: PMC3063661

Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

Morinière V, Dahan K, Hilbert P, Lison M, Lebbah S, Topa A, Bole-Feysot C, Pruvost S, Nitschke P, Plaisier E, Knebelmann B, Macher MA, Noel LH, Gubler MC, Antignac C, Heidet L.

J Am Soc Nephrol. 2014 Dec;25(12):2740-51. doi: 10.1681/ASN.2013080912. Epub 2014 May 22.

PubMed [citation]

PMID:: 24854265
PMCID:: PMC4243343

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004435644.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Gly596Argfs*10) in the COL4A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A4 are known to be pathogenic (PMID: 21196518, 24854265, 25307543). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL4A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1179194). For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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