NM_000091.4(COL4A3):c.1354G>A (p.Gly452Arg) AND Alport syndrome, autosomal recessive

Clinical significance:Likely pathogenic (Last evaluated: Apr 10, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000666502.1

Allele description [Variation Report for NM_000091.4(COL4A3):c.1354G>A (p.Gly452Arg)]

NM_000091.4(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_000091.4(COL4A3):c.1354G>A (p.Gly452Arg)
HGVS:
  • NC_000002.12:g.227266455G>A
  • NG_011591.1:g.106891G>A
  • NM_000091.4:c.1354G>A
  • 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
Protein change:
G452R
Links:
dbSNP: rs772958162
NCBI 1000 Genomes Browser:
rs772958162
Molecular consequence:
  • NM_000091.4:c.1354G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Alport syndrome, autosomal recessive (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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000790807Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 10, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 10, 2021

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