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NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) AND History of neurodevelopmental disorder

Germline classification:
Benign (1 submission)
Last evaluated:
May 17, 2016
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:
RCV000715867.2

Allele description

NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)

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.2941G>A (p.Ala981Thr)
HGVS:
  • NC_000016.10:g.3769293C>T
  • NG_009873.1:g.115828G>A
  • NG_009873.2:g.116421G>A
  • NM_001079846.1:c.2827G>A
  • NM_004380.3:c.2941G>AMANE SELECT
  • NP_001073315.1:p.Ala943Thr
  • NP_004371.2:p.Ala981Thr
  • LRG_1426t1:c.2941G>A
  • LRG_1426:g.116421G>A
  • LRG_1426p1:p.Ala981Thr
  • NC_000016.9:g.3819294C>T
  • NM_004380.2:c.2941G>A
Protein change:
A943T
Links:
dbSNP: rs61753380
NCBI 1000 Genomes Browser:
rs61753380
Molecular consequence:
  • NM_001079846.1:c.2827G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004380.3:c.2941G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000846699Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Benign
(May 17, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000846699.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 19, 2022