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:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000679932	Phosphorus, Inc.	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Aug 1, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24033266, 24503780, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000679932

Phosphorus, Inc.

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Aug 1, 2017)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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