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NM_020297.4(ABCC9):c.4512+824G>C AND Dilated cardiomyopathy 1O

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 2023
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:
RCV001320789.4

Allele description [Variation Report for NM_020297.4(ABCC9):c.4512+824G>C]

NM_020297.4(ABCC9):c.4512+824G>C

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+824G>C
HGVS:
  • NC_000012.12:g.21805174C>G
  • NG_012819.1:g.136521G>C
  • NM_001377273.1:c.4512+824G>C
  • NM_001377274.1:c.3645+824G>C
  • NM_005691.4:c.4650G>C
  • NM_020297.4:c.4512+824G>CMANE SELECT
  • NP_005682.2:p.Ter1550Tyr
  • LRG_377:g.136521G>C
  • NC_000012.11:g.21958108C>G
  • NM_005691.3:c.4650G>C
Links:
dbSNP: rs1941745235
NCBI 1000 Genomes Browser:
rs1941745235
Molecular consequence:
  • NM_001377273.1:c.4512+824G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377274.1:c.3645+824G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020297.4:c.4512+824G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005691.4:c.4650G>C - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:
Dilated cardiomyopathy 1O (CMD1O)
Synonyms:
CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA
Identifiers:
MONDO: MONDO:0012062; MedGen: C1837839; Orphanet: 154; OMIM: 608569

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001511587Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 28, 2023) 		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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001511587.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1021093). This variant has not been reported in the literature in individuals affected with ABCC9-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the ABCC9 mRNA. It is expected to extend the length of the ABCC9 protein by an uncertain number of additional amino acid residues.

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

Last Updated: Mar 5, 2024