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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

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Assertion and evidence details

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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

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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