NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) AND Autosomal recessive Alport syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 10, 2017
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:: RCV000666502.2

Allele description [Variation Report for NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)]

NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)

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.1354G>A (p.Gly452Arg)

HGVS:

NC_000002.12:g.227266455G>A
NG_011591.1:g.106891G>A
NM_000091.5:c.1354G>AMANE SELECT
NP_000082.2:p.Gly452Arg
NP_000082.2:p.Gly452Arg
LRG_230t1:c.1354G>A
LRG_230:g.106891G>A
LRG_230p1:p.Gly452Arg
NC_000002.11:g.228131171G>A
NM_000091.4:c.1354G>A
NM_000091.5:c.1354G>A

Protein change:

G452R

Links:

dbSNP: rs772958162

NCBI 1000 Genomes Browser:

rs772958162

Molecular consequence:

NM_000091.5:c.1354G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive Alport syndrome (ATS2)
Synonyms:: Alport syndrome recessive type; Nephropathy and deafness; ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008762; MedGen: C4746745; Orphanet: 63; Orphanet: 88919; OMIM: 203780

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000790807	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Apr 10, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24633401, 24033287 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000790807

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Apr 10, 2017)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Natural history of genetically proven autosomal recessive Alport syndrome.

Oka M, Nozu K, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Morisada N, Yan K, Matsuo M, Yoshikawa N, Vorechovsky I, Iijima K.

Pediatr Nephrol. 2014 Sep;29(9):1535-44. doi: 10.1007/s00467-014-2797-4. Epub 2014 Mar 15.

PubMed [citation]

PMID:: 24633401

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.

Fallerini C, Dosa L, Tita R, Del Prete D, Feriozzi S, Gai G, Clementi M, La Manna A, Miglietti N, Mancini R, Mandrile G, Ghiggeri GM, Piaggio G, Brancati F, Diano L, Frate E, Pinciaroli AR, Giani M, Castorina P, Bresin E, Giachino D, De Marchi M, et al.

Clin Genet. 2014 Sep;86(3):252-7. doi: 10.1111/cge.12258. Epub 2013 Oct 17.

PubMed [citation]

PMID:: 24033287

Details of each submission

From Counsyl, SCV000790807.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Jun 23, 2024

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