NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) AND Alport syndrome 3, autosomal dominant

Clinical significance:Pathogenic (Last evaluated: Oct 11, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000505632.3

Allele description [Variation Report for NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup)]

NM_000091.4(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_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup)
HGVS:
  • NC_000002.12:g.227295297_227295299dup
  • NG_011591.1:g.135733_135735dup
  • NM_000091.4:c.3546_3548dup
  • 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_3548dupAGG
Links:
dbSNP: rs1175052474
NCBI 1000 Genomes Browser:
rs1175052474
Molecular consequence:
  • NM_000091.4:c.3546_3548dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Alport syndrome 3, autosomal dominant (ATS3)
Synonyms:
Alport syndrome dominant type; Renal failure and sensorineural hearing loss
Identifiers:
MONDO: MONDO:0007086; MedGen: C4746547; Orphanet: 63; Orphanet: 88918; OMIM: 104200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000599808Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcareno assertion criteria providedPathogenic
(Oct 31, 2019)
germlineclinical testing

SCV001369701Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Pathogenic
(Oct 11, 2019)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownyesnot providednot providednot providednot providednot providedclinical 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 Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare, SCV000599808.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV001369701.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM1,PM2,PM4.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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