NM_033380.3(COL4A5):c.6dup (p.Leu3fs) AND X-linked Alport syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 21, 2024
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:: RCV004555520.2

Allele description [Variation Report for NM_033380.3(COL4A5):c.6dup (p.Leu3fs)]

NM_033380.3(COL4A5):c.6dup (p.Leu3fs)

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.6dup (p.Leu3fs)

HGVS:

NC_000023.11:g.108440131dup
NG_011977.2:g.5208dup
NG_012059.2:g.4346dup
NM_000495.5:c.6dup
NM_033380.3:c.6dupMANE SELECT
NP_000486.1:p.Leu3fs
NP_203699.1:p.Leu3fs
LRG_232t1:c.6dup
LRG_232t2:c.6dup
LRG_232:g.5208dup
LRG_232p1:p.Leu3fs
LRG_232p2:p.Leu3fs
LRG_233:g.4346dup
NC_000023.10:g.107683361dup

Protein change:

L3fs

Molecular consequence:

NM_000495.5:c.6dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033380.3:c.6dup - 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
SCV005044495	MVZ Medizinische Genetik Mainz	criteria provided, single submitter (UK Practice Guidelines For Variant Classification V4 01 2020)	Pathogenic (Feb 21, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005044495

MVZ Medizinische Genetik Mainz

criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)

Pathogenic
(Feb 21, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV005044495.1

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

Description

ACMG Criteria: PVS1,PM2_SUP,PP4

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

Last Updated: Jun 2, 2024

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