NM_000091.5(COL4A3):c.2657-1G>C AND Autosomal dominant Alport syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 14, 2021
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:: RCV004555298.2

Allele description [Variation Report for NM_000091.5(COL4A3):c.2657-1G>C]

NM_000091.5(COL4A3):c.2657-1G>C

Genes:

MFF-DT:MFF divergent transcript [Gene - HGNC]
COL4A3:collagen type IV alpha 3 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q36.3

Genomic location:

Preferred name:

NM_000091.5(COL4A3):c.2657-1G>C

HGVS:

NC_000002.12:g.227283766G>C
NG_011591.1:g.124202G>C
NM_000091.5:c.2657-1G>CMANE SELECT
LRG_230:g.124202G>C
NC_000002.11:g.228148482G>C

Molecular consequence:

NM_000091.5:c.2657-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

Condition(s)

Name:: Autosomal dominant Alport syndrome (ATS3A)
Synonyms:: Alport syndrome dominant type; Renal failure and sensorineural hearing loss; Alport syndrome 3, autosomal dominant; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007086; MedGen: C5882663; Orphanet: 63; Orphanet: 88918; OMIM: 104200

Recent activity

Clear Turn Off Turn On

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
SCV005044271	MVZ Medizinische Genetik Mainz	criteria provided, single submitter (UK Practice Guidelines For Variant Classification V4 01 2020)	Pathogenic (Oct 14, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005044271

MVZ Medizinische Genetik Mainz

criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)

Pathogenic
(Oct 14, 2021)

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, SCV005044271.1

#	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 (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 23, 2024

ClinVar

Relating variation to medicine