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NM_004380.3(CREBBP):c.5173-191_5173-188dup AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 24, 2019
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:
RCV001577995.3

Allele description [Variation Report for NM_004380.3(CREBBP):c.5173-191_5173-188dup]

NM_004380.3(CREBBP):c.5173-191_5173-188dup

Gene:
CREBBP:CREB binding protein [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_004380.3(CREBBP):c.5173-191_5173-188dup
HGVS:
  • NC_000016.10:g.3730062_3730065dup
  • NG_009873.2:g.155649_155652dup
  • NM_001079846.1:c.5059-191_5059-188dup
  • NM_004380.3:c.5173-191_5173-188dupMANE SELECT
  • LRG_1426t1:c.5173-191_5173-188dup
  • LRG_1426:g.155649_155652dup
  • NC_000016.9:g.3780063_3780066dup
  • NG_009873.1:g.155056_155059dup
Links:
dbSNP: rs540059123
NCBI 1000 Genomes Browser:
rs540059123
Molecular consequence:
  • NM_001079846.1:c.5059-191_5059-188dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004380.3:c.5173-191_5173-188dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001805505GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Apr 24, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001805505.1

#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: Dec 24, 2023