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NM_001367721.1(CASK):c.1669-6dup AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Feb 25, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000540173.27

Allele description [Variation Report for NM_001367721.1(CASK):c.1669-6dup]

NM_001367721.1(CASK):c.1669-6dup

Gene:
CASK:calcium/calmodulin dependent serine protein kinase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_001367721.1(CASK):c.1669-6dup
HGVS:
  • NC_000023.11:g.41559859dup
  • NG_016754.2:g.368182dup
  • NM_001126054.3:c.1669-6dup
  • NM_001126055.3:c.1651-6dup
  • NM_001367721.1:c.1669-6dupMANE SELECT
  • NM_001410745.1:c.1651-6dup
  • NM_003688.4:c.1669-6dup
  • NC_000023.10:g.41419105_41419106insG
  • NC_000023.10:g.41419112dup
  • NM_003688.3:c.1669-6dup
  • NM_003688.3:c.1669-6dupC
Links:
dbSNP: rs746809939
NCBI 1000 Genomes Browser:
rs746809939
Molecular consequence:
  • NM_001126054.3:c.1669-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001126055.3:c.1651-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367721.1:c.1669-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001410745.1:c.1651-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003688.4:c.1669-6dup - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001156005CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Uncertain significance
(Jun 1, 2019) 		germlineclinical testing

Citation Link,

SCV001829669GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Feb 25, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001156005.22

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001829669.2

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

Description

See Variant Classification Assertion Criteria.

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

Last Updated: May 12, 2024