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NM_020297.4(ABCC9):c.2238-17del AND Dilated Cardiomyopathy, Dominant

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000379853.5

Allele description [Variation Report for NM_020297.4(ABCC9):c.2238-17del]

NM_020297.4(ABCC9):c.2238-17del

Gene:
ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_020297.4(ABCC9):c.2238-17del
HGVS:
  • NC_000012.12:g.21863081del
  • NG_012819.1:g.78624del
  • NM_001377273.1:c.2238-17del
  • NM_001377274.1:c.1374-20del
  • NM_005691.4:c.2238-17del
  • NM_020297.4:c.2238-17delMANE SELECT
  • LRG_377t1:c.2238-17del
  • LRG_377t2:c.2238-17del
  • LRG_377:g.78624del
  • NC_000012.11:g.22016005del
  • NC_000012.11:g.22016015del
  • NC_000012.12:g.21863071delA
  • NM_005691.2:c.2238-17delT
  • NM_005691.3:c.2238-17del
  • NM_020297.2:c.2238-17delT
  • NM_020297.2:c.2238-17delT
Links:
dbSNP: rs4148670
NCBI 1000 Genomes Browser:
rs4148670
Molecular consequence:
  • NM_001377273.1:c.2238-17del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377274.1:c.1374-20del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005691.4:c.2238-17del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020297.4:c.2238-17del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Dilated Cardiomyopathy, Dominant
Identifiers:
MedGen: CN239310

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000377508Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000377508.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
2not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
2germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 4, 2024