NM_033380.3(COL4A5):c.2741G>A (p.Gly914Asp) AND Alport syndrome 1, X-linked recessive

Clinical significance:Pathogenic (Last evaluated: Feb 2, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000207888.2

Allele description [Variation Report for NM_033380.3(COL4A5):c.2741G>A (p.Gly914Asp)]

NM_033380.3(COL4A5):c.2741G>A (p.Gly914Asp)

Gene:
COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.3
Genomic location:
Preferred name:
NM_033380.3(COL4A5):c.2741G>A (p.Gly914Asp)
HGVS:
  • NC_000023.11:g.108621866G>A
  • NG_011977.1:g.186943G>A
  • NG_011977.2:g.186943G>A
  • NM_000495.5:c.2741G>A
  • NM_033380.3:c.2741G>AMANE SELECT
  • NP_000486.1:p.Gly914Asp
  • NP_203699.1:p.Gly914Asp
  • LRG_232t1:c.2741G>A
  • LRG_232t2:c.2741G>A
  • LRG_232:g.186943G>A
  • LRG_232p1:p.Gly914Asp
  • LRG_232p2:p.Gly914Asp
  • NC_000023.10:g.107865096G>A
  • NM_033380.2:c.2741G>A
Protein change:
G914D
Links:
dbSNP: rs869025332
NCBI 1000 Genomes Browser:
rs869025332
Molecular consequence:
  • NM_000495.5:c.2741G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033380.3:c.2741G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Alport syndrome 1, X-linked recessive (ATS1)
Synonyms:
NEPHROPATHY AND DEAFNESS, X-LINKED; Alport Syndrome and Thin Basement Membrane Nephropathy; X-linked Alport syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010520; MedGen: C4746986; Orphanet: 63; Orphanet: 88917; OMIM: 301050

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000262772Genetic Diagnostic Laboratory,University of Szegedcriteria provided, single submitter
Pathogenic
(Feb 2, 2016)
inheritedclinical testing

GDL Assertion Criteria ver 1 Jan 2016.doc

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes31not providednot providedyesclinical testing

Details of each submission

From Genetic Diagnostic Laboratory,University of Szeged, SCV000262772.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providedyesclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot provideddiscovery3not provided1not provided

Last Updated: Nov 27, 2021

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