NM_014141.6(CNTNAP2):c.1777+10A>G AND not provided

Clinical significance:Benign (Last evaluated: Mar 3, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001711247.1

Allele description [Variation Report for NM_014141.6(CNTNAP2):c.1777+10A>G]

NM_014141.6(CNTNAP2):c.1777+10A>G

Gene:
CNTNAP2:contactin associated protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q35
Genomic location:
Preferred name:
NM_014141.6(CNTNAP2):c.1777+10A>G
HGVS:
  • NC_000007.14:g.147486051A>G
  • NG_007092.2:g.1374691A>G
  • NG_007092.3:g.1375051A>G
  • NM_014141.6:c.1777+10A>GMANE SELECT
  • NC_000007.13:g.147183143A>G
  • NM_014141.5:c.1777+10A>G
Links:
dbSNP: rs2286127
NCBI 1000 Genomes Browser:
rs2286127
Molecular consequence:
  • NM_014141.6:c.1777+10A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001945364GeneDxcriteria provided, single submitter
Benign
(Mar 3, 2015)
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, SCV001945364.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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