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NM_033380.3(COL4A5):c.687+1G>A AND Alport syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 15, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001328299.1

Allele description [Variation Report for NM_033380.3(COL4A5):c.687+1G>A]

NM_033380.3(COL4A5):c.687+1G>A

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.687+1G>A
HGVS:
  • NC_000023.11:g.108578120G>A
  • NG_011977.2:g.143197G>A
  • NM_000495.5:c.687+1G>A
  • NM_033380.3:c.687+1G>AMANE SELECT
  • LRG_232t1:c.687+1G>A
  • LRG_232t2:c.687+1G>A
  • LRG_232:g.143197G>A
  • NC_000023.10:g.107821350G>A
  • NM_000495.4:c.687+1G>A
Links:
dbSNP: rs104886440
NCBI 1000 Genomes Browser:
rs104886440
Molecular consequence:
  • NM_000495.5:c.687+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_033380.3:c.687+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Alport syndrome
Synonyms:
Hemorrhagic familial nephritis; Hemorrhagic hereditary nephritis; Congenital hereditary hematuria
Identifiers:
MONDO: MONDO:0018965; MedGen: C1567741; OMIM: PS301050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449284Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Pathogenic
(Nov 15, 2015) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sydney Genome Diagnostics, Children's Hospital Westmead, SCV001449284.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This patient is heterozygous for a known pathogenic variant, c.687+1G>A, in the COL4A5 gene. This variant is predicted to abolish the consensus donor splice site at c.687 and is likely to result in the skipping of exon 12. This splice site variant is listed twice in the COL4A5 Alport database, (http://www.arup.utah.edu/database/ALPORT/ALPORT_display.php).One of the reports in the database was by Lemmink et al 1997 (Hum. Mutat. 9:477-499) who lists an individual with renal failure at 30 years of age. Lin et al (2014 BMC Nephrol 15:175) also reports this variant segregating with disease in a family with multiple affected individuals. The authors comment that the disease in this family was unusually severe in the female patients and unusually mild in the male patient and suggests this maybe due to variable X-chromosome inactivation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 5, 2023