NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) AND Alport syndrome, autosomal recessive

Clinical significance:Uncertain significance (Last evaluated: Mar 11, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001089932.1

Allele description [Variation Report for NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln)]

NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln)

Gene:
COL4A4:collagen type IV alpha 4 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q36.3
Genomic location:
Preferred name:
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln)
HGVS:
  • NC_000002.12:g.227056031C>T
  • NG_011592.1:g.113529G>A
  • NM_000092.4:c.2630G>A
  • NP_000083.3:p.Arg877Gln
  • LRG_231t1:c.2630G>A
  • LRG_231:g.113529G>A
  • LRG_231p1:p.Arg877Gln
  • NC_000002.11:g.227920747C>T
Protein change:
R877Q
Links:
dbSNP: rs150979437
NCBI 1000 Genomes Browser:
rs150979437
Molecular consequence:
  • NM_000092.4:c.2630G>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
SCV001245133Medical Genetics, University of Parmacriteria provided, single submitter
Uncertain significance
(Mar 11, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Medical Genetics, University of Parma, SCV001245133.1

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

Last Updated: Sep 25, 2021

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