NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg) AND Alport syndrome, autosomal recessive

Clinical significance:Pathogenic (Last evaluated: Jul 7, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000668107.1

Allele description [Variation Report for NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg)]

NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg)

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.2452G>A (p.Gly818Arg)
HGVS:
  • NC_000002.12:g.227280970G>A
  • NG_011591.1:g.121406G>A
  • NM_000091.4:c.2452G>A
  • NP_000082.2:p.Gly818Arg
  • LRG_230t1:c.2452G>A
  • LRG_230:g.121406G>A
  • LRG_230p1:p.Gly818Arg
  • NC_000002.11:g.228145686G>A
  • NM_000091.3:c.2452G>A
  • p.GLY818ARG
Protein change:
G818R
Links:
dbSNP: rs868002181
NCBI 1000 Genomes Browser:
rs868002181
Molecular consequence:
  • NM_000091.4:c.2452G>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
SCV000792658Counsylno assertion criteria providedPathogenic
(Jul 7, 2017)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

Storey H, Savige J, Sivakumar V, Abbs S, Flinter FA.

J Am Soc Nephrol. 2013 Dec;24(12):1945-54. doi: 10.1681/ASN.2012100985. Epub 2013 Sep 19.

PubMed [citation]
PMID:
24052634
PMCID:
PMC3839543

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.

Gast C, Pengelly RJ, Lyon M, Bunyan DJ, Seaby EG, Graham N, Venkat-Raman G, Ennis S.

Nephrol Dial Transplant. 2016 Jun;31(6):961-70. doi: 10.1093/ndt/gfv325. Epub 2015 Sep 7.

PubMed [citation]
PMID:
26346198

Details of each submission

From Counsyl, SCV000792658.2

#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: Aug 27, 2021

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