NM_004006.2(DMD):c.2168+1G>A AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 27, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000414740.1

Allele description [Variation Report for NM_004006.2(DMD):c.2168+1G>A]

NM_004006.2(DMD):c.2168+1G>A

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.2(DMD):c.2168+1G>A
HGVS:
  • NC_000023.11:g.32545158C>T
  • NG_012232.1:g.799452G>A
  • NM_004006.2:c.2168+1G>A
  • LRG_199t1:c.2168+1G>A
  • LRG_199:g.799452G>A
  • NC_000023.10:g.32563275C>T
Links:
dbSNP: rs1057518207
NCBI 1000 Genomes Browser:
rs1057518207
Molecular consequence:
  • NM_004006.2:c.2168+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000491654GeneDxcriteria provided, single submitter
Pathogenic
(Oct 27, 2016)
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, SCV000491654.2

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

Description

The c.2168+1 G>A splice site variant in the DMD gene has been reported previously in association with Duchenne muscular dystrophy (Aartsma-Rus et al., 2006). This pathogenic variant destroys the canonical splice donor site in intron 17, and is expected to cause abnormal gene splicing. Futhermore, the c.2168+1 G>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

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

Last Updated: Apr 17, 2019

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