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NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs) AND Autosomal recessive Alport syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 7, 2020
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:
RCV001280875.2

Allele description [Variation Report for NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)]

NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)

Gene:
COL4A4:collagen type IV alpha 4 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q36.3
Genomic location:
Preferred name:
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)
HGVS:
  • NC_000002.12:g.227008143del
  • NG_011592.1:g.161417del
  • NM_000092.5:c.4684delMANE SELECT
  • NP_000083.3:p.Tyr1562fs
  • LRG_231t1:c.4684del
  • LRG_231:g.161417del
  • NC_000002.11:g.227872859del
  • NM_000092.4:c.4684del
Protein change:
Y1562fs
Links:
dbSNP: rs1962591629
NCBI 1000 Genomes Browser:
rs1962591629
Molecular consequence:
  • NM_000092.5:c.4684del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autosomal recessive Alport syndrome (ATS2)
Synonyms:
Alport syndrome recessive type; Nephropathy and deafness; ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008762; MedGen: C4746745; Orphanet: 63; Orphanet: 88919; OMIM: 203780

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001468220Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
no assertion criteria provided
Pathogenic
(Feb 7, 2020)
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, SCV001468220.1

#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: Feb 28, 2024