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NM_033380.3(COL4A5):c.4315+2T>A AND X-linked Alport syndrome

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001542721.2

Allele description [Variation Report for NM_033380.3(COL4A5):c.4315+2T>A]

NM_033380.3(COL4A5):c.4315+2T>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.4315+2T>A
HGVS:
  • NC_000023.11:g.108686131T>A
  • NG_011977.2:g.251208T>A
  • NM_000495.5:c.4297+2T>A
  • NM_033380.3:c.4315+2T>AMANE SELECT
  • LRG_232t1:c.4297+2T>A
  • LRG_232t2:c.4315+2T>A
  • LRG_232:g.251208T>A
  • NC_000023.10:g.107929361T>A
Links:
dbSNP: rs2147989449
NCBI 1000 Genomes Browser:
rs2147989449
Molecular consequence:
  • NM_000495.5:c.4297+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_033380.3:c.4315+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]

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

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001760500Genomics England Pilot Project, Genomics England
no assertion criteria provided

(ACGS Guidelines, 2016)		Likely pathogenicgermlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Genomics England Pilot Project, Genomics England, SCV001760500.1

#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: Dec 24, 2023