NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) AND Macroscopic hematuria

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2017
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:: RCV000626594.1

Allele description

NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)

Genes:

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

Variant type:

Duplication

Cytogenetic location:

2q36.3

Genomic location:

Preferred name:

NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)

HGVS:

NC_000002.12:g.227295297_227295299dup
NG_011591.1:g.135733_135735dup
NM_000091.5:c.3546_3548dupMANE SELECT
NP_000082.2:p.Gly1183dup
NP_000082.2:p.Gly1183dup
LRG_230t1:c.3546_3548dup
LRG_230:g.135733_135735dup
LRG_230p1:p.Gly1183dup
NC_000002.11:g.228160011_228160012insGAG
NC_000002.11:g.228160013_228160015dup
NM_000091.4:c.3546_3548dup
NM_000091.4:c.3546_3548dupAGG

Links:

dbSNP: rs1175052474

NCBI 1000 Genomes Browser:

rs1175052474

Molecular consequence:

NM_000091.5:c.3546_3548dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Macroscopic hematuria
Identifiers:: MedGen: C0473237; Human Phenotype Ontology: HP:0012587

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000747295	Centre for Mendelian Genomics,University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 1, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000747295

Centre for Mendelian Genomics,University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 1, 2017)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV000747295.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 24, 2022

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