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NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) AND X-linked Alport syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jun 7, 2019
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:
RCV000995521.8

Allele description [Variation Report for NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)]

NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)

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.3197G>A (p.Gly1066Asp)
HGVS:
  • NC_000023.11:g.108626300G>A
  • NG_011977.2:g.191377G>A
  • NM_000495.5:c.3197G>A
  • NM_033380.3:c.3197G>AMANE SELECT
  • NP_000486.1:p.Gly1066Asp
  • NP_203699.1:p.Gly1066Asp
  • LRG_232t1:c.3197G>A
  • LRG_232t2:c.3197G>A
  • LRG_232:g.191377G>A
  • LRG_232p1:p.Gly1066Asp
  • LRG_232p2:p.Gly1066Asp
  • NC_000023.10:g.107869530G>A
  • NG_011977.1:g.191377G>A
  • NM_000495.4:c.3197G>A
  • NM_033380.1:c.3197G>A
Protein change:
G1066D
Links:
dbSNP: rs104886221
NCBI 1000 Genomes Browser:
rs104886221
Molecular consequence:
  • NM_000495.5:c.3197G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033380.3:c.3197G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001149733Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Pathogenic
(Jun 7, 2019) 		germlineclinical testing

Citation Link,

SCV001192776Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
no assertion criteria provided
Likely pathogenic
(Sep 26, 2019) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001149733.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1bloodnot provided1not providednot providednot provided

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV001192776.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024