NM_020297.4(ABCC9):c.4450-6_4450-5del AND not provided

Germline classification:: Likely benign (2 submissions)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000861736.7

Allele description [Variation Report for NM_020297.4(ABCC9):c.4450-6_4450-5del]

NM_020297.4(ABCC9):c.4450-6_4450-5del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_020297.4(ABCC9):c.4450-6_4450-5del

HGVS:

NC_000012.12:g.21806065_21806066del
NC_000012.12:g.21806075_21806076del
NG_012819.1:g.135629_135630del
NM_001377273.1:c.4450-6_4450-5del
NM_001377274.1:c.3583-6_3583-5del
NM_005691.4:c.4450-6_4450-5del
NM_020297.4:c.4450-6_4450-5delMANE SELECT
LRG_377:g.135629_135630del
NC_000012.11:g.21958999_21959000del
NC_000012.11:g.21959009_21959010del
NM_005691.3:c.4450-6_4450-5del
NM_005691.3:c.4450-6_4450-5delTT

Links:

dbSNP: rs4148680

NCBI 1000 Genomes Browser:

rs4148680

Molecular consequence:

NM_001377273.1:c.4450-6_4450-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_001377274.1:c.3583-6_3583-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_005691.4:c.4450-6_4450-5del - intron variant - [Sequence Ontology: SO:0001627]
NM_020297.4:c.4450-6_4450-5del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Hepatectomy
Hepatectomy
Excision of all or part of the liver. (Dorland, 28th ed)<br/>

MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001923942	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001963263	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001923942

Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Likely benign

germline

clinical testing

SCV001963263

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus

no assertion criteria provided

Likely benign

germline

clinical testing

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 Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001923942.1

#	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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001963263.1

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine