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NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly) AND Autosomal dominant Alport syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 27, 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:
RCV000735696.3

Allele description [Variation Report for NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly)]

NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly)

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.2756A>G (p.Glu919Gly)
HGVS:
  • NC_000002.12:g.227054698T>C
  • NG_011592.1:g.114862A>G
  • NM_000092.5:c.2756A>GMANE SELECT
  • NP_000083.3:p.Glu919Gly
  • NP_000083.3:p.Glu919Gly
  • LRG_231t1:c.2756A>G
  • LRG_231:g.114862A>G
  • LRG_231p1:p.Glu919Gly
  • NC_000002.11:g.227919414T>C
  • NC_000002.11:g.227919414T>C
  • NM_000092.4:c.2756A>G
Protein change:
E919G
Links:
dbSNP: rs753208968
NCBI 1000 Genomes Browser:
rs753208968
Molecular consequence:
  • NM_000092.5:c.2756A>G - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000863844Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
no assertion criteria provided
Uncertain significance
(Mar 27, 2018) 		germlineclinical testing

Help

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, SCV000863844.1

#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: Sep 29, 2024