NM_000392.5(ABCC2):c.2273_2439+1del AND Dubin-Johnson syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 1998
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:: RCV000008924.4

Allele description [Variation Report for NM_000392.5(ABCC2):c.2273_2439+1del]

NM_000392.5(ABCC2):c.2273_2439+1del

Gene:

ABCC2:ATP binding cassette subfamily C member 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q24

Preferred name:

NM_000392.5(ABCC2):c.2273_2439+1del

HGVS:

NC_000010.11:g.99818791_99818958del
NG_011798.2:g.41194_41361del
NM_000392.5:c.2273_2439+1delMANE SELECT
LRG_1208t1:c.2273_2439+1del
LRG_1208:g.41194_41361del
NC_000010.10:g.101578548_101578715del
NM_000392.5:c.2272_2439delMANE SELECT

Note:

This variant was characterized (PubMed 9425227) only with respect to the transcript and corresponds to loss of exon 18. The change at the genomic level was not reported.

Links:

OMIM: 601107.0002; dbSNP: rs2133078815

Molecular consequence:

NM_000392.5:c.2273_2439+1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_000392.5:c.2273_2439+1del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Dubin-Johnson syndrome (DJS)
Synonyms:: Jaundice, Chronic Idiopathic; HYPERBILIRUBINEMIA, DUBIN-JOHNSON TYPE; Hyperbilirubinemia type 2
Identifiers:: MONDO: MONDO:0009380; MedGen: C0022350; Orphanet: 234; OMIM: 237500

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Gm5925 predicted gene 5925 [Mus musculus]
Gm5925 predicted gene 5925 [Mus musculus]
Gene ID:546185

Gene
Gm5925 AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029134	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 1998)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029134

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 1998)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome.

Wada M, Toh S, Taniguchi K, Nakamura T, Uchiumi T, Kohno K, Yoshida I, Kimura A, Sakisaka S, Adachi Y, Kuwano M.

Hum Mol Genet. 1998 Feb;7(2):203-7.

PubMed [citation]

PMID:: 9425227

Details of each submission

From OMIM, SCV000029134.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the 168-bp deletion (2272del168) in the ABCC2 gene that was found in 2 brothers with Dubin-Johnson syndrome (DJS; 237500) by Wada et al. (1998), see 601107.0001.

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

Last Updated: Dec 24, 2023

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