NM_000352.6(ABCC8):c.4609-103del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 17, 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:: RCV001653236.2

Allele description [Variation Report for NM_000352.6(ABCC8):c.4609-103del]

NM_000352.6(ABCC8):c.4609-103del

Gene:

ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_000352.6(ABCC8):c.4609-103del

HGVS:

NC_000011.10:g.17393232del
NG_008867.1:g.88672del
NG_012446.1:g.429del
NM_000352.6:c.4609-103delMANE SELECT
NM_001287174.3:c.4612-103del
NM_001351295.2:c.4675-103del
NM_001351296.2:c.4609-103del
NM_001351297.2:c.4606-103del
LRG_790t1:c.4609-103del
LRG_790t2:c.4612-103del
LRG_790:g.88672del
NC_000011.9:g.17414779del

Links:

dbSNP: rs1799731

NCBI 1000 Genomes Browser:

rs1799731

Molecular consequence:

NM_000352.6:c.4609-103del - intron variant - [Sequence Ontology: SO:0001627]
NM_001287174.3:c.4612-103del - intron variant - [Sequence Ontology: SO:0001627]
NM_001351295.2:c.4675-103del - intron variant - [Sequence Ontology: SO:0001627]
NM_001351296.2:c.4609-103del - intron variant - [Sequence Ontology: SO:0001627]
NM_001351297.2:c.4606-103del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

CG6805 uncharacterized protein [Drosophila melanogaster]
CG6805 uncharacterized protein [Drosophila melanogaster]
Gene ID:36911

Gene

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
SCV001871479	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Aug 17, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001871479

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Aug 17, 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, SCV001871479.1

#	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