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NM_004380.3(CREBBP):c.5518G>T (p.Val1840Leu) AND Neurodevelopmental abnormality

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 3, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001264634.1

Allele description [Variation Report for NM_004380.3(CREBBP):c.5518G>T (p.Val1840Leu)]

NM_004380.3(CREBBP):c.5518G>T (p.Val1840Leu)

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.5518G>T (p.Val1840Leu)
HGVS:
  • NC_000016.10:g.3729529C>A
  • NG_009873.2:g.156185G>T
  • NM_001079846.1:c.5404G>T
  • NM_004380.3:c.5518G>TMANE SELECT
  • NP_001073315.1:p.Val1802Leu
  • NP_004371.2:p.Val1840Leu
  • LRG_1426t1:c.5518G>T
  • LRG_1426:g.156185G>T
  • LRG_1426p1:p.Val1840Leu
  • NC_000016.9:g.3779530C>A
  • NG_009873.1:g.155592G>T
  • NM_004380.2:c.5518G>T
Protein change:
V1802L
Links:
dbSNP: rs2051853150
NCBI 1000 Genomes Browser:
rs2051853150
Molecular consequence:
  • NM_001079846.1:c.5404G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004380.3:c.5518G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neurodevelopmental abnormality
Identifiers:
MedGen: C4022737; Human Phenotype Ontology: HP:0012759

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001442849Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
no assertion criteria provided
Likely benign
(Apr 3, 2020) 		maternalclinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, SCV001442849.1

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

Last Updated: Oct 13, 2024