NM_000091.5(COL4A3):c.2603G>A (p.Gly868Glu) AND Autosomal dominant Alport syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 7, 2021
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:: RCV001533419.2

Allele description [Variation Report for NM_000091.5(COL4A3):c.2603G>A (p.Gly868Glu)]

NM_000091.5(COL4A3):c.2603G>A (p.Gly868Glu)

Genes:

MFF-DT:MFF divergent transcript [Gene - HGNC]
COL4A3:collagen type IV alpha 3 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q36.3

Genomic location:

Preferred name:

NM_000091.5(COL4A3):c.2603G>A (p.Gly868Glu)

HGVS:

NC_000002.12:g.227282479G>A
NG_011591.1:g.122915G>A
NM_000091.5:c.2603G>AMANE SELECT
NP_000082.2:p.Gly868Glu
LRG_230t1:c.2603G>A
LRG_230:g.122915G>A
NC_000002.11:g.228147195G>A
NM_000091.4:c.2603G>A

Protein change:

G868E

Links:

dbSNP: rs2072046668

NCBI 1000 Genomes Browser:

rs2072046668

Molecular consequence:

NM_000091.5:c.2603G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

functional variant [Sequence Ontology: SO:0001536]

Condition(s)

Name:: Autosomal dominant Alport syndrome (ATS3A)
Synonyms:: Alport syndrome dominant type; Renal failure and sensorineural hearing loss; Alport syndrome 3, autosomal dominant; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007086; MedGen: C4746547; Orphanet: 63; Orphanet: 88918; OMIM: 104200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001745858	Zhipeng Lab, Tongji Hospital	no assertion criteria provided	Pathogenic (Jul 7, 2021)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001745858

Zhipeng Lab, Tongji Hospital

no assertion criteria provided

Pathogenic
(Jul 7, 2021)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Chinese	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Zhipeng Lab, Tongji Hospital, SCV001745858.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Chinese	not provided	not provided	not provided	clinical testing	not provided

Description

The variants in COL4A3 have been reported in Alport syndrome.Here a novel variants (c.2603G>A; p.G868E) has been identified in in a Chinese family with autosomal dominant Alport syndrome by whole exome sequencing.

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

Last Updated: Dec 24, 2023

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