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NM_020297.4(ABCC9):c.2093-7T>C AND Brugada syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 1, 2017
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:
RCV000577954.9

Allele description [Variation Report for NM_020297.4(ABCC9):c.2093-7T>C]

NM_020297.4(ABCC9):c.2093-7T>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.2093-7T>C
HGVS:
  • NC_000012.12:g.21872737A>G
  • NG_012819.1:g.68958T>C
  • NM_001377273.1:c.2093-7T>C
  • NM_001377274.1:c.1229-7T>C
  • NM_005691.4:c.2093-7T>C
  • NM_020297.4:c.2093-7T>CMANE SELECT
  • LRG_377t1:c.2093-7T>C
  • LRG_377t2:c.2093-7T>C
  • LRG_377:g.68958T>C
  • NC_000012.11:g.22025671A>G
  • NM_005691.2:c.2093-7T>C
  • NM_005691.3:c.2093-7T>C
  • NM_020297.2:c.2093-7T>C
  • NM_020297.3:c.2093-7T>C
  • c.2093-7T>C
Links:
dbSNP: rs185235724
NCBI 1000 Genomes Browser:
rs185235724
Molecular consequence:
  • NM_001377273.1:c.2093-7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377274.1:c.1229-7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005691.4:c.2093-7T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020297.4:c.2093-7T>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Brugada syndrome
Synonyms:
Sudden unexpected nocturnal death syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Death Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015263; MedGen: C1142166; OMIM: PS601144

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000679932Phosphorus, Inc.
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Aug 1, 2017) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.

Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6.

PubMed [citation]
PMID:
24503780
See all PubMed Citations (3)

Details of each submission

From Phosphorus, Inc., SCV000679932.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024