NM_000092.5(COL4A4):c.693G>A (p.Lys231=) AND Autosomal dominant Alport syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 5, 2018
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:: RCV000735750.3

Allele description [Variation Report for NM_000092.5(COL4A4):c.693G>A (p.Lys231=)]

NM_000092.5(COL4A4):c.693G>A (p.Lys231=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q36.3

Genomic location:

Preferred name:

NM_000092.5(COL4A4):c.693G>A (p.Lys231=)

HGVS:

NC_000002.12:g.227108833C>T
NG_011592.1:g.60727G>A
NM_000092.5:c.693G>AMANE SELECT
NP_000083.3:p.Lys231=
NP_000083.3:p.Lys231=
LRG_231t1:c.693G>A
LRG_231:g.60727G>A
LRG_231p1:p.Lys231=
NC_000002.11:g.227973549C>T
NM_000092.4:c.693G>A

Links:

dbSNP: rs1559644463

NCBI 1000 Genomes Browser:

rs1559644463

Molecular consequence:

NM_000092.5:c.693G>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
SCV000863909	Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	no assertion criteria provided	Likely pathogenic (Jul 5, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000863909

Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

no assertion criteria provided

Likely pathogenic
(Jul 5, 2018)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000863909.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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