NM_000092.5(COL4A4):c.2634_2660del (p.Ala880_Gly888del) AND Autosomal recessive Alport syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 17, 2023
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:: RCV003984958.2

Allele description [Variation Report for NM_000092.5(COL4A4):c.2634_2660del (p.Ala880_Gly888del)]

NM_000092.5(COL4A4):c.2634_2660del (p.Ala880_Gly888del)

Gene:

COL4A4:collagen type IV alpha 4 chain [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q36.3

Genomic location:

Preferred name:

NM_000092.5(COL4A4):c.2634_2660del (p.Ala880_Gly888del)

HGVS:

NC_000002.12:g.227056003_227056029del
NG_011592.1:g.113533_113559del
NM_000092.5:c.2634_2660delMANE SELECT
NP_000083.3:p.Ala880_Gly888del
NP_000083.3:p.Ala880_Gly888del
LRG_231t1:c.2632_2658del27
LRG_231:g.113533_113559del
LRG_231p1:p.Ala880_Gly888del
NC_000002.11:g.227920719_227920745del
NM_000092.4:c.2632_2658del27

Molecular consequence:

NM_000092.5:c.2634_2660del - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

Condition(s)

Name:: Autosomal recessive Alport syndrome (ATS2)
Synonyms:: Alport syndrome recessive type; Nephropathy and deafness; ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008762; MedGen: C4746745; Orphanet: 63; Orphanet: 88919; OMIM: 203780

Recent activity

Clear Turn Off Turn On

LOC110790194 [Spinacia oleracea]
LOC110790194 [Spinacia oleracea]
Gene ID:110790194

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004801073	MVZ Medizinische Genetik Mainz	criteria provided, single submitter (UK Practice Guidelines For Variant Classification V4 01 2020)	Likely pathogenic (Aug 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004801073

MVZ Medizinische Genetik Mainz

criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)

Likely pathogenic
(Aug 17, 2023)

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, SCV004801073.1

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

Description

PM4,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

ClinVar

Relating variation to medicine