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NM_001378615.1(CC2D2A):c.4315-6_4315-3del AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 10, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001574763.3

Allele description [Variation Report for NM_001378615.1(CC2D2A):c.4315-6_4315-3del]

NM_001378615.1(CC2D2A):c.4315-6_4315-3del

Gene:
CC2D2A:coiled-coil and C2 domain containing 2A [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
4p15.32
Genomic location:
Preferred name:
NM_001378615.1(CC2D2A):c.4315-6_4315-3del
HGVS:
  • NC_000004.12:g.15596075TCTT[1]
  • NG_013035.1:g.131210TCTT[1]
  • NM_001080522.2:c.4315-6_4315-3del
  • NM_001378615.1:c.4315-6_4315-3delMANE SELECT
  • NM_001378617.1:c.4168-6_4168-3del
  • LRG_697t1:c.4315-6_4315-3del
  • LRG_697:g.131210TCTT[1]
  • NC_000004.11:g.15597698TCTT[1]
  • NC_000004.11:g.15597698_15597701del
  • NM_001080522.2:c.4315-6_4315-3delTCTT
Links:
dbSNP: rs926806639
NCBI 1000 Genomes Browser:
rs926806639
Molecular consequence:
  • NM_001080522.2:c.4315-6_4315-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378615.1:c.4315-6_4315-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378617.1:c.4168-6_4168-3del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001801635GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely pathogenic
(Mar 10, 2021)
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, SCV001801635.1

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Jul 15, 2024