NM_020297.4(ABCC9):c.1165-6dup AND Familial atrial fibrillation

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000406811.5

Allele description [Variation Report for NM_020297.4(ABCC9):c.1165-6dup]

NM_020297.4(ABCC9):c.1165-6dup

Gene:

ABCC9:ATP binding cassette subfamily C member 9 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_020297.4(ABCC9):c.1165-6dup

HGVS:

NC_000012.12:g.21910331dup
NG_012819.1:g.31377dup
NM_001377273.1:c.1165-6dup
NM_001377274.1:c.301-6dup
NM_005691.4:c.1165-6dup
NM_020297.4:c.1165-6dupMANE SELECT
LRG_377:g.31377dup
NC_000012.11:g.22063265dup
NM_005691.2:c.1165-6dupT
NM_005691.3:c.1165-6dupT
c.1165-6_1165-5insT

Links:

dbSNP: rs35857705

NCBI 1000 Genomes Browser:

rs35857705

Molecular consequence:

NM_001377273.1:c.1165-6dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001377274.1:c.301-6dup - intron variant - [Sequence Ontology: SO:0001627]
NM_005691.4:c.1165-6dup - intron variant - [Sequence Ontology: SO:0001627]
NM_020297.4:c.1165-6dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Familial atrial fibrillation
Identifiers:: MONDO: MONDO:0018054; MedGen: C3468561; Orphanet: 334; OMIM: PS608583

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000377540	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000377540

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000377540.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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		not provided	not provided	not provided	not provided

Last Updated: Feb 4, 2024

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