NM_033380.3(COL4A5):c.188dup (p.Phe64fs) AND X-linked Alport syndrome

Germline classification:: Pathogenic (1 submission)
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:: RCV000995516.5

Allele description [Variation Report for NM_033380.3(COL4A5):c.188dup (p.Phe64fs)]

NM_033380.3(COL4A5):c.188dup (p.Phe64fs)

Gene:

COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xq22.3

Genomic location:

Preferred name:

NM_033380.3(COL4A5):c.188dup (p.Phe64fs)

HGVS:

NC_000023.11:g.108559110dup
NG_011977.2:g.124187dup
NM_000495.5:c.188dup
NM_033380.3:c.188dupMANE SELECT
NP_000486.1:p.Phe64fs
NP_203699.1:p.Phe64fs
LRG_232t1:c.188dup
LRG_232t2:c.188dup
LRG_232:g.124187dup
LRG_232p1:p.Phe64fs
LRG_232p2:p.Phe64fs
NC_000023.10:g.107802340dup
NG_011977.1:g.124187dup

Protein change:

F64fs

Links:

dbSNP: rs1603276159

NCBI 1000 Genomes Browser:

rs1603276159

Molecular consequence:

NM_000495.5:c.188dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033380.3:c.188dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001149723	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Jun 7, 2019)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001149723

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Jun 7, 2019)

de novo

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001149723.1

#	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	1	blood	not provided		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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