NM_033380.3(COL4A5):c.4822-10T>C AND X-linked Alport syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 8, 2021
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:: RCV002293281.1

Allele description [Variation Report for NM_033380.3(COL4A5):c.4822-10T>C]

NM_033380.3(COL4A5):c.4822-10T>C

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.4822-10T>C

HGVS:

NC_000023.11:g.108695257T>C
NG_011977.2:g.260334T>C
NM_000495.5:c.4804-10T>C
NM_033380.3:c.4822-10T>CMANE SELECT
LRG_232t1:c.4804-10T>C
LRG_232t2:c.4822-10T>C
LRG_232:g.260334T>C
NC_000023.10:g.107938487T>C

Molecular consequence:

NM_000495.5:c.4804-10T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_033380.3:c.4822-10T>C - intron variant - [Sequence Ontology: SO:0001627]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002584998	Prenatal Diagnosis Center, Inner Mongolia Medical University	no assertion criteria provided	Pathogenic (Jan 8, 2021)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002584998

Prenatal Diagnosis Center, Inner Mongolia Medical University

no assertion criteria provided

Pathogenic
(Jan 8, 2021)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	1	not provided	not provided	not provided	clinical testing

Details of each submission

From Prenatal Diagnosis Center, Inner Mongolia Medical University, SCV002584998.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Sep 29, 2024

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