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NM_000392.5(ABCC2):c.3741+1G>T AND ABCC2-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 31, 2024
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:
RCV004745568.1

Allele description [Variation Report for NM_000392.5(ABCC2):c.3741+1G>T]

NM_000392.5(ABCC2):c.3741+1G>T

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_000392.5(ABCC2):c.3741+1G>T
HGVS:
  • NC_000010.11:g.99842094G>T
  • NG_011798.2:g.64497G>T
  • NM_000392.5:c.3741+1G>TMANE SELECT
  • LRG_1208t1:c.3741+1G>T
  • LRG_1208:g.64497G>T
  • NC_000010.10:g.101601851G>T
  • NM_000392.3:c.3741+1G>T
  • NM_000392.4:c.3741+1G>T
Links:
dbSNP: rs34937870
NCBI 1000 Genomes Browser:
rs34937870
Molecular consequence:
  • NM_000392.5:c.3741+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
ABCC2-related disorder
Synonyms:
ABCC2-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005347882PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(May 31, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005347882.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ABCC2 c.3741+1G>T variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant has been reported along with another ABCC2 variant in an individual with Dubin-Johnson syndrome (Corpechot et al. 2019. PubMed ID: 31544333). This variant is reported in 0.010% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Variants that disrupt the consensus splice donor site in ABCC2 are expected to be pathogenic. Given the evidence, we interpret c.3741+1G>T as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024