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NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 1, 2020
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:
RCV000254930.23

Allele description

NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp)

Gene:
CREBBP:CREB binding protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp)
HGVS:
  • NC_000016.10:g.3729445G>A
  • NG_009873.2:g.156269C>T
  • NM_001079846.1:c.5488C>T
  • NM_004380.3:c.5602C>TMANE SELECT
  • NP_001073315.1:p.Arg1830Trp
  • NP_004371.2:p.Arg1868Trp
  • NP_004371.2:p.Arg1868Trp
  • LRG_1426t1:c.5602C>T
  • LRG_1426:g.156269C>T
  • LRG_1426p1:p.Arg1868Trp
  • NC_000016.9:g.3779446G>A
  • NG_009873.1:g.155676C>T
  • NM_004380.2:c.5602C>T
Protein change:
R1830W; ARG1868TRP
Links:
OMIM: 600140.0011; dbSNP: rs886039491
NCBI 1000 Genomes Browser:
rs886039491
Molecular consequence:
  • NM_001079846.1:c.5488C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004380.3:c.5602C>T - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000322143GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Dec 2, 2019) 		germlineclinical testing

Citation Link,

SCV001500054CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Oct 1, 2020) 		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 GeneDx, SCV000322143.7

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29460469, 30892814, 27311832, 29159939)

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

From CeGaT Center for Human Genetics Tuebingen, SCV001500054.20

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

Last Updated: Jul 15, 2024