NM_033380.3(COL4A5):c.3595G>A (p.Gly1199Arg) AND X-linked Alport syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 12, 2022
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:: RCV004555483.2

Allele description [Variation Report for NM_033380.3(COL4A5):c.3595G>A (p.Gly1199Arg)]

NM_033380.3(COL4A5):c.3595G>A (p.Gly1199Arg)

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.3595G>A (p.Gly1199Arg)

HGVS:

NC_000023.11:g.108667174G>A
NG_011977.2:g.232251G>A
NM_000495.5:c.3595G>A
NM_033380.3:c.3595G>AMANE SELECT
NP_000486.1:p.Gly1199Arg
NP_203699.1:p.Gly1199Arg
LRG_232t1:c.3595G>A
LRG_232t2:c.3595G>A
LRG_232:g.232251G>A
LRG_232p1:p.Gly1199Arg
LRG_232p2:p.Gly1199Arg
NC_000023.10:g.107910404G>A

Protein change:

G1199R

Molecular consequence:

NM_000495.5:c.3595G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033380.3:c.3595G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005044458	MVZ Medizinische Genetik Mainz	criteria provided, single submitter (UK Practice Guidelines For Variant Classification V4 01 2020)	Pathogenic (Jan 12, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005044458

MVZ Medizinische Genetik Mainz

criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)

Pathogenic
(Jan 12, 2022)

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, SCV005044458.1

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

Description

ACMG Criteria: PM1_STR, PM5, PM2_SUP, PP2, PP3, PP4 (ACMG Version 3)

#	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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