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NM_000092.5(COL4A4):c.1580del (p.Gly527fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 11, 2020
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:
RCV001089913.2

Allele description [Variation Report for NM_000092.5(COL4A4):c.1580del (p.Gly527fs)]

NM_000092.5(COL4A4):c.1580del (p.Gly527fs)

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.1580del (p.Gly527fs)
HGVS:
  • NC_000002.12:g.227088697del
  • NG_011592.1:g.80864del
  • NM_000092.5:c.1580delMANE SELECT
  • NP_000083.3:p.Gly527fs
  • LRG_231t1:c.1580del
  • LRG_231:g.80864del
  • NC_000002.11:g.227953412del
  • NC_000002.11:g.227953413del
  • NM_000092.4:c.1580del
  • NM_000092.4:c.1580delG
Protein change:
G527fs
Links:
dbSNP: rs2059732983
NCBI 1000 Genomes Browser:
rs2059732983
Molecular consequence:
  • NM_000092.5:c.1580del - frameshift variant - [Sequence Ontology: SO:0001589]

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
Name:
Benign familial hematuria
Identifiers:
MONDO: MONDO:0957317; MedGen: C0241908; OMIM: PS141200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001245146Medical Genetics, University of Parma
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 11, 2020)
germlineclinical 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

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 Medical Genetics, University of Parma, SCV001245146.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024