NM_004380.3(CREBBP):c.2062C>G (p.Pro688Ala) AND CREBBP-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 12, 2024
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:: RCV003984408.2

Allele description [Variation Report for NM_004380.3(CREBBP):c.2062C>G (p.Pro688Ala)]

NM_004380.3(CREBBP):c.2062C>G (p.Pro688Ala)

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.2062C>G (p.Pro688Ala)

HGVS:

NC_000016.10:g.3778062G>C
NG_009873.2:g.107652C>G
NM_001079846.1:c.1948C>G
NM_004380.2:c.2062C>G
NM_004380.3:c.2062C>GMANE SELECT
NP_001073315.1:p.Pro650Ala
NP_004371.2:p.Pro688Ala
LRG_1426t1:c.2062C>G
LRG_1426:g.107652C>G
LRG_1426p1:p.Pro688Ala
NC_000016.9:g.3828063G>C

Protein change:

P650A

Molecular consequence:

NM_001079846.1:c.1948C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004380.3:c.2062C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Goniastrea edwardsi voucher KAUST SA0483 18S ribosomal RNA gene, partial sequenc...
Goniastrea edwardsi voucher KAUST SA0483 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|684192889|gb|KJ666333.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004799809	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Jan 12, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004799809

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Jan 12, 2024)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004799809.2

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

Description

The CREBBP c.2062C>G variant is predicted to result in the amino acid substitution p.Pro688Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 13, 2024

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