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NM_001378615.1(CC2D2A):c.4179+1del AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Apr 27, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000725911.16

Allele description [Variation Report for NM_001378615.1(CC2D2A):c.4179+1del]

NM_001378615.1(CC2D2A):c.4179+1del

Gene:
CC2D2A:coiled-coil and C2 domain containing 2A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4p15.32
Genomic location:
Preferred name:
NM_001378615.1(CC2D2A):c.4179+1del
HGVS:
  • NC_000004.12:g.15587930del
  • NG_013035.1:g.123065del
  • NM_001080522.2:c.4179+1del
  • NM_001378615.1:c.4179+1delMANE SELECT
  • NM_001378617.1:c.4032+1del
  • LRG_697t1:c.4179+1del
  • LRG_697:g.123065del
  • NC_000004.11:g.15589552del
  • NC_000004.11:g.15589553del
  • NM_001080522.2:c.4179+1delG
  • NM_001080522.2:c.4179delG
  • NM_001378615.1:c.4179+1del
Links:
dbSNP: rs386833760
NCBI 1000 Genomes Browser:
rs386833760
Molecular consequence:
  • NM_001080522.2:c.4179+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378615.1:c.4179+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001378617.1:c.4032+1del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000701189Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Pathogenic
(Mar 14, 2016) 		germlineclinical testing

Citation Link,

SCV002512803GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Apr 27, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000701189.2

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

From GeneDx, SCV002512803.2

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

Description

Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 31589614, 33486889, 19777577, 26092869, 19466712)

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

Last Updated: Nov 24, 2024