U.S. flag

An official website of the United States government

NM_004380.3(CREBBP):c.5361_5432del (p.Asn1787_Arg1810del) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 27, 2017
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:
RCV000523606.1

Allele description [Variation Report for NM_004380.3(CREBBP):c.5361_5432del (p.Asn1787_Arg1810del)]

NM_004380.3(CREBBP):c.5361_5432del (p.Asn1787_Arg1810del)

Gene:
CREBBP:CREB binding protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_004380.3(CREBBP):c.5361_5432del (p.Asn1787_Arg1810del)
HGVS:
  • NC_000016.10:g.3729620_3729691del
  • NG_009873.1:g.155435_155506del
  • NG_009873.2:g.156028_156099del
  • NM_001079846.1:c.5247_5318del
  • NM_004380.3:c.5361_5432delMANE SELECT
  • NP_001073315.1:p.Asn1749_Arg1772del
  • NP_004371.2:p.Asn1787_Arg1810del
  • LRG_1426t1:c.5361_5432del
  • LRG_1426:g.156028_156099del
  • LRG_1426p1:p.Asn1787_Arg1810del
  • NC_000016.9:g.3779621_3779692del
  • NM_004380.2:c.5361_5432del72
  • NM_004380.2:c.5361_5432delCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAA
Links:
dbSNP: rs1555471385
NCBI 1000 Genomes Browser:
rs1555471385
Molecular consequence:
  • NM_001079846.1:c.5247_5318del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004380.3:c.5361_5432del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000621806GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Oct 27, 2017) 		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, SCV000621806.2

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

Description

The c.5361_5432del72 variant in the CREBBP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes an in-frame deletion of 24 amino acids, denoted p.Asn1787_Arg1810del. All 24 deleted amino acids are conserved across species, and in silico analysis predicts this deletion is probably damaging to the protein structure/function. The c.5361_5432del72 variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.5361_5432del72 as a likely pathogenic variant.

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

Last Updated: Apr 23, 2022