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NM_004380.3(CREBBP):c.5357G>C (p.Arg1786Pro) AND CREBBP-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 3, 2023
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:
RCV003402462.4

Allele description [Variation Report for NM_004380.3(CREBBP):c.5357G>C (p.Arg1786Pro)]

NM_004380.3(CREBBP):c.5357G>C (p.Arg1786Pro)

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.5357G>C (p.Arg1786Pro)
HGVS:
  • NC_000016.10:g.3729690C>G
  • NG_009873.2:g.156024G>C
  • NM_001079846.1:c.5243G>C
  • NM_004380.3:c.5357G>CMANE SELECT
  • NP_001073315.1:p.Arg1748Pro
  • NP_004371.2:p.Arg1786Pro
  • LRG_1426t1:c.5357G>C
  • LRG_1426:g.156024G>C
  • LRG_1426p1:p.Arg1786Pro
  • NC_000016.9:g.3779691C>G
  • NM_004380.2:c.5357G>C
Protein change:
R1748P
Molecular consequence:
  • NM_001079846.1:c.5243G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004380.3:c.5357G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CREBBP-related disorder
Synonyms:
CREBBP-related condition; CREBBP-Related Disorders
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004110702PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 3, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004110702.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The CREBBP c.5357G>C variant is predicted to result in the amino acid substitution p.Arg1786Pro. This variant is found within exon 31 and was reported as de novo in an individual with developmental delay and variable facial features (Patient 3 in Menke et al. 2016. PubMed ID: 27311832). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. In addition, another variant impacting the same amino acid (p.Arg1786His) has also been reported as de novo in a patient with Menke-Hennekam syndrome (Patient #1 in Banka et al. 2019. PubMed ID: 30892814). Based on this evidence, we interpret the c.5357G>C (p.Arg1786Pro) variant as likely pathogenic.

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

Last Updated: May 12, 2024