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NM_020297.4(ABCC9):c.4512+746_4512+747insT AND Cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 23, 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:
RCV001798620.4

Allele description [Variation Report for NM_020297.4(ABCC9):c.4512+746_4512+747insT]

NM_020297.4(ABCC9):c.4512+746_4512+747insT

Gene:
ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_020297.4(ABCC9):c.4512+746_4512+747insT
HGVS:
  • NC_000012.12:g.21805251_21805252insA
  • NG_012819.1:g.136443_136444insT
  • NM_001377273.1:c.4512+746_4512+747insT
  • NM_001377274.1:c.3645+746_3645+747insT
  • NM_005691.4:c.4572_4573insT
  • NM_020297.4:c.4512+746_4512+747insTMANE SELECT
  • NP_005682.2:p.Val1525fs
  • NP_005682.2:p.Val1525fs
  • LRG_377t1:c.4512+746_4512+747insT
  • LRG_377t2:c.4572_4573insT
  • LRG_377:g.136443_136444insT
  • NC_000012.11:g.21958185_21958186insA
  • NM_005691.2:c.4572_4573insT
  • NM_005691.3:c.4572_4573insT
  • NM_020297.2:c.4512+746_4512+747insT
Protein change:
V1525fs
Links:
dbSNP: rs761784169
NCBI 1000 Genomes Browser:
rs761784169
Molecular consequence:
  • NM_005691.4:c.4572_4573insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001377273.1:c.4512+746_4512+747insT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377274.1:c.3645+746_3645+747insT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020297.4:c.4512+746_4512+747insT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002043556CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 23, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV002043556.1

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

Last Updated: Sep 29, 2024