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:
current
Accession:
RCV000489957.1

Allele description

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

Gene:
ABCC2:ATP binding cassette subfamily C member 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q24.2
Genomic location:
Preferred name:
NM_000392.4(ABCC2):c.3337delC (p.Val1114Serfs)
HGVS:
  • 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
Links:
dbSNP: rs1085307525
NCBI 1000 Genomes Browser:
rs1085307525
Molecular consequence:
  • NM_000392.4:c.3337delC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000576642GeneDxcriteria provided, single submitter
Pathogenic
(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

Description

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.

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

Last Updated: Nov 20, 2018

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