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NM_004380.3(CREBBP):c.5367C>G (p.Asn1789Lys) AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 26, 2021
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:
RCV001420341.2

Allele description [Variation Report for NM_004380.3(CREBBP):c.5367C>G (p.Asn1789Lys)]

NM_004380.3(CREBBP):c.5367C>G (p.Asn1789Lys)

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.5367C>G (p.Asn1789Lys)
HGVS:
  • NC_000016.10:g.3729680G>C
  • NG_009873.2:g.156034C>G
  • NM_001079846.1:c.5253C>G
  • NM_004380.3:c.5367C>GMANE SELECT
  • NP_001073315.1:p.Asn1751Lys
  • NP_004371.2:p.Asn1789Lys
  • LRG_1426t1:c.5367C>G
  • LRG_1426:g.156034C>G
  • LRG_1426p1:p.Asn1789Lys
  • NC_000016.9:g.3779681G>C
  • NG_009873.1:g.155441C>G
Protein change:
N1751K
Links:
dbSNP: rs2151311363
NCBI 1000 Genomes Browser:
rs2151311363
Molecular consequence:
  • NM_001079846.1:c.5253C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004380.3:c.5367C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001622761Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli
criteria provided, single submitter

(Parc Tauli Hospital Assertion Criteria 2021)		Likely pathogenic
(Apr 26, 2021) 		de novoclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli, SCV001622761.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

PM1_moderate;PM2_supporting;PM5_moderate;PM6_moderate;PP2_supporting;PP3_supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024