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NM_020297.4(ABCC9):c.4512+826C>T AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2021
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:
RCV001582401.1

Allele description [Variation Report for NM_020297.4(ABCC9):c.4512+826C>T]

NM_020297.4(ABCC9):c.4512+826C>T

Gene:
ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_020297.4(ABCC9):c.4512+826C>T
HGVS:
  • NC_000012.12:g.21805172G>A
  • NG_012819.1:g.136523C>T
  • NM_001377273.1:c.4512+826C>T
  • NM_001377274.1:c.3645+826C>T
  • NM_005691.4:c.*2C>T
  • NM_020297.4:c.4512+826C>TMANE SELECT
  • LRG_377:g.136523C>T
  • NC_000012.11:g.21958106G>A
Links:
dbSNP: rs2137103904
NCBI 1000 Genomes Browser:
rs2137103904
Molecular consequence:
  • NM_005691.4:c.*2C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001377273.1:c.4512+826C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377274.1:c.3645+826C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020297.4:c.4512+826C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001821454Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 14, 2021) 		germlineclinical testing

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001821454.1

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

Description

Variant summary: ABCC9 c.*2C>T is located in the untranslated mRNA region downstream of the termination codon. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251298 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.*2C>T in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Dec 24, 2023