NM_000392.4(ABCC2):c.3337delC (p.Val1114Serfs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description

NM_000392.4(ABCC2):c.3337delC (p.Val1114Serfs)

ABCC2:ATP binding cassette subfamily C member 2 [Gene - OMIM - HGNC]
Variant type:
Cytogenetic location:
Genomic location:
Preferred name:
NM_000392.4(ABCC2):c.3337delC (p.Val1114Serfs)
  • NC_000010.11:g.99834458delC
  • NG_011798.1:g.56753delC
  • NM_000392.4:c.3337delC
  • NP_000383.1:p.Val1114Serfs
  • NC_000010.10:g.101594215delC
dbSNP: rs1085307525
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000392.4:c.3337delC - frameshift variant - [Sequence Ontology: SO:0001589]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000576642GeneDxcriteria provided, single submitter
(Apr 24, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000576642.3

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


The c.3337delC variant in the ABCC2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3337delC variant causes a frameshift starting with codon Valine 1114, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Val1114SerfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3337delC variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.3337delC as a pathogenic variant.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2018

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