NM_000392.4(ABCC2):c.3972C>T (p.Ile1324=) AND Dubin-Johnson syndrome

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000396735.1

Allele description

NM_000392.4(ABCC2):c.3972C>T (p.Ile1324=)

Gene:
ABCC2:ATP binding cassette subfamily C member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.2
Genomic location:
Preferred name:
NM_000392.4(ABCC2):c.3972C>T (p.Ile1324=)
HGVS:
  • NC_000010.11:g.99844450C>T
  • NG_011798.1:g.66745C>T
  • NM_000392.4:c.3972C>T
  • NP_000383.1:p.Ile1324=
  • NC_000010.10:g.101604207C>T
  • NM_000392.3:c.3972C>T
Links:
dbSNP: rs3740066
GMAF:
0.2881(T), 3740066
NCBI 1000 Genomes Browser:
rs3740066
Allele Frequency:
0.34204(T)
Molecular consequence:
  • NM_000392.4:c.3972C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000359810Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

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

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Association of the multidrug-resistance-associated protein gene (ABCC2) variants with intrahepatic cholestasis of pregnancy.

Sookoian S, Castaño G, Burgueño A, Gianotti TF, Pirola CJ.

J Hepatol. 2008 Jan;48(1):125-32. Epub 2007 Oct 23.

PubMed [citation]
PMID:
17997497

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000359810.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 27, 2017