NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=) AND Autosomal dominant Alport syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 4, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001276578.2

Allele description [Variation Report for NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)]

NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)

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.4482G>A (p.Leu1494=)

HGVS:

NC_000002.12:g.227308918G>A
NG_011591.1:g.149354G>A
NM_000091.5:c.4482G>AMANE SELECT
NP_000082.2:p.Leu1494=
NP_000082.2:p.Leu1494=
LRG_230t1:c.4482G>A
LRG_230:g.149354G>A
LRG_230p1:p.Leu1494=
NC_000002.11:g.228173634G>A
NM_000091.4:c.4482G>A
p.Leu1494Leu

Links:

dbSNP: rs181952966

NCBI 1000 Genomes Browser:

rs181952966

Molecular consequence:

NM_000091.5:c.4482G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001462977	Natera, Inc.	no assertion criteria provided	Likely benign (Jun 4, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001462977

Natera, Inc.

no assertion criteria provided

Likely benign
(Jun 4, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001462977.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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