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NM_000092.5(COL4A4):c.4503dup (p.Ala1502fs) AND Disease of glomerular basement membrane

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 11, 2019
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:
RCV001849702.1

Allele description [Variation Report for NM_000092.5(COL4A4):c.4503dup (p.Ala1502fs)]

NM_000092.5(COL4A4):c.4503dup (p.Ala1502fs)

Gene:
COL4A4:collagen type IV alpha 4 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q36.3
Genomic location:
Preferred name:
NM_000092.5(COL4A4):c.4503dup (p.Ala1502fs)
HGVS:
  • NC_000002.12:g.227010334dup
  • NG_011592.1:g.159228dup
  • NM_000092.5:c.4503dupMANE SELECT
  • NP_000083.3:p.Ala1502fs
  • LRG_231t1:c.4503dup
  • LRG_231:g.159228dup
  • NC_000002.11:g.227875050dup
  • NM_000092.4:c.4503dupA
Protein change:
A1502fs
Links:
dbSNP: rs2149743538
NCBI 1000 Genomes Browser:
rs2149743538
Molecular consequence:
  • NM_000092.5:c.4503dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Disease of glomerular basement membrane
Identifiers:
MedGen: CN307170

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002106682Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics
no assertion criteria provided
Pathogenic
(Sep 11, 2019) 		unknownliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD.

Gulati A, Sevillano AM, Praga M, Gutierrez E, Alba I, Dahl NK, Besse W, Choi J, Somlo S.

Kidney Int Rep. 2020 Jan;5(1):103-108. doi: 10.1016/j.ekir.2019.09.004. No abstract available.

PubMed [citation]
PMID:
31922066
PMCID:
PMC6943786

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106682.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jan 26, 2024