NM_020297.4(ABCC9):c.3097-224dup AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 6, 2018
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:: RCV001645779.2

Allele description [Variation Report for NM_020297.4(ABCC9):c.3097-224dup]

NM_020297.4(ABCC9):c.3097-224dup

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.3097-224dup

HGVS:

NC_000012.12:g.21845139dup
NG_012819.1:g.96557dup
NM_001377273.1:c.3097-224dup
NM_001377274.1:c.2230-224dup
NM_005691.4:c.3097-224dup
NM_020297.4:c.3097-224dupMANE SELECT
LRG_377:g.96557dup
NC_000012.11:g.21998073dup

Links:

dbSNP: rs3842294

NCBI 1000 Genomes Browser:

rs3842294

Molecular consequence:

NM_001377273.1:c.3097-224dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001377274.1:c.2230-224dup - intron variant - [Sequence Ontology: SO:0001627]
NM_005691.4:c.3097-224dup - intron variant - [Sequence Ontology: SO:0001627]
NM_020297.4:c.3097-224dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001858938	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jul 6, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001858938

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Jul 6, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001858938.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine