NM_004380.3(CREBBP):c.5323T>C (p.Cys1775Arg) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 6, 2018
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:: RCV000443507.1

Allele description [Variation Report for NM_004380.3(CREBBP):c.5323T>C (p.Cys1775Arg)]

NM_004380.3(CREBBP):c.5323T>C (p.Cys1775Arg)

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.5323T>C (p.Cys1775Arg)

HGVS:

NC_000016.10:g.3729724A>G
NG_009873.2:g.155990T>C
NM_001079846.1:c.5209T>C
NM_004380.3:c.5323T>CMANE SELECT
NP_001073315.1:p.Cys1737Arg
NP_004371.2:p.Cys1775Arg
NP_004371.2:p.Cys1775Arg
LRG_1426t1:c.5323T>C
LRG_1426:g.155990T>C
LRG_1426p1:p.Cys1775Arg
NC_000016.9:g.3779725A>G
NG_009873.1:g.155397T>C
NM_004380.2:c.5323T>C

Protein change:

C1737R

Links:

dbSNP: rs1057524802

NCBI 1000 Genomes Browser:

rs1057524802

Molecular consequence:

NM_001079846.1:c.5209T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_004380.3:c.5323T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000536494	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Aug 6, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000536494

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Aug 6, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000536494.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The C1775R variant in the CREBBP gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The C1775R variant is not observed in large population cohorts (Lek et al., 2016). The C1775R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret C1775R as a likely pathogenic variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 12, 2024

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