NM_000091.4(COL4A3):c.3575G>A (p.Gly1192Glu) AND Alport syndrome 3, autosomal dominant

Clinical significance:Pathogenic (Last evaluated: Jan 15, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000787016.1

Allele description [Variation Report for NM_000091.4(COL4A3):c.3575G>A (p.Gly1192Glu)]

NM_000091.4(COL4A3):c.3575G>A (p.Gly1192Glu)

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_000091.4(COL4A3):c.3575G>A (p.Gly1192Glu)
HGVS:
  • NC_000002.12:g.227297683G>A
  • NG_011591.1:g.138119G>A
  • NM_000091.4:c.3575G>A
  • NP_000082.2:p.Gly1192Glu
  • LRG_230t1:c.3575G>A
  • LRG_230:g.138119G>A
  • LRG_230p1:p.Gly1192Glu
  • NC_000002.11:g.228162399G>A
Protein change:
G1192E
Links:
dbSNP: rs1574823172
NCBI 1000 Genomes Browser:
rs1574823172
Molecular consequence:
  • NM_000091.4:c.3575G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000925925Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcareno assertion criteria providedPathogenic
(Jan 15, 2019)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare, SCV000925925.1

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

Last Updated: May 14, 2021

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