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NM_020297.4(ABCC9):c.3201del (p.Leu1068fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 23, 2014
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:
RCV000183239.1

Allele description [Variation Report for NM_020297.4(ABCC9):c.3201del (p.Leu1068fs)]

NM_020297.4(ABCC9):c.3201del (p.Leu1068fs)

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.3201del (p.Leu1068fs)
HGVS:
  • NC_000012.12:g.21844811del
  • NG_012819.1:g.96884del
  • NM_001377273.1:c.3201del
  • NM_001377274.1:c.2334del
  • NM_005691.4:c.3201del
  • NM_020297.4:c.3201delMANE SELECT
  • NP_001364202.1:p.Leu1068fs
  • NP_001364203.1:p.Leu779fs
  • NP_005682.2:p.Leu1068fs
  • NP_064693.2:p.Leu1068fs
  • LRG_377t1:c.3201del
  • LRG_377:g.96884del
  • NC_000012.11:g.21997745del
  • NM_020297.2:c.3201delT
  • p.L1068FfsX9
Protein change:
L1068fs
Links:
dbSNP: rs794728958
NCBI 1000 Genomes Browser:
rs794728958
Molecular consequence:
  • NM_001377273.1:c.3201del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001377274.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005691.4:c.3201del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_020297.4:c.3201del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000235665GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 23, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000235665.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Although the c.3201delT variant in the ABCC9 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Leucine 1068, changing it to a Phenylalanine, and creating a premature stop codon at position 9 of the new reading frame, denoted p.Leu1068PhefsX9. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. However, while missense variants in this regulatory K-ATP channel subunit result in defective ion channel function and confer susceptibility to dilated cardiomyopathy, haploinsufficiency is not thought to be a mechanism of disease for ABCC9-related cardiomyopathy (Bienengraeber M et al., 2004). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant and is interpreted to be a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022