NM_000092.5(COL4A4):c.2164+2T>G AND Chronic kidney disease

Clinical significance:Likely pathogenic (Last evaluated: May 28, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001254909.1

Allele description [Variation Report for NM_000092.5(COL4A4):c.2164+2T>G]

NM_000092.5(COL4A4):c.2164+2T>G

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.2164+2T>G
HGVS:
  • NC_000002.12:g.227060134A>C
  • NG_011592.1:g.109426T>G
  • NM_000092.5:c.2164+2T>GMANE SELECT
  • LRG_231t1:c.2164+2T>G
  • LRG_231:g.109426T>G
  • NC_000002.11:g.227924850A>C
  • NM_000092.4:c.2164+2T>G
Molecular consequence:
  • NM_000092.5:c.2164+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Chronic kidney disease
Synonyms:
Loss of renal function; Progressive renal failure; Progressive renal insufficiency
Identifiers:
MONDO: MONDO:0005300; MedGen: C1561643; Human Phenotype Ontology: HP:0012622

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001431017Cavalleri Lab, Royal College of Surgeons in Irelandcriteria provided, single submitter
Likely pathogenic
(May 28, 2020)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes2not providednot providednot providednot providedresearch

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 Cavalleri Lab, Royal College of Surgeons in Ireland, SCV001431017.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (1)

Description

PVS1, PM2, BP5

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Feb 12, 2021

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