NM_004380.3(CREBBP):c.7063C>T (p.Gln2355Ter) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 13, 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:: RCV000627350.1

Allele description [Variation Report for NM_004380.3(CREBBP):c.7063C>T (p.Gln2355Ter)]

NM_004380.3(CREBBP):c.7063C>T (p.Gln2355Ter)

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.7063C>T (p.Gln2355Ter)

HGVS:

NC_000016.10:g.3727984G>A
NG_009873.1:g.157137C>T
NG_009873.2:g.157730C>T
NM_001079846.1:c.6949C>T
NM_004380.3:c.7063C>TMANE SELECT
NP_001073315.1:p.Gln2317Ter
NP_004371.2:p.Gln2355Ter
NP_004371.2:p.Gln2355Ter
LRG_1426t1:c.7063C>T
LRG_1426:g.157730C>T
LRG_1426p1:p.Gln2355Ter
NC_000016.9:g.3777985G>A
NM_004380.2:c.7063C>T

Protein change:

Q2317*

Links:

dbSNP: rs1179308620

NCBI 1000 Genomes Browser:

rs1179308620

Molecular consequence:

NM_001079846.1:c.6949C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_004380.3:c.7063C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000748342	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Apr 13, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000748342

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Apr 13, 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, SCV000748342.3

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

Description

The Q2355X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation as the last 88 amino acids of the CREBBP protein are lost. The Q2355X variant is not observed in large population cohorts (Lek et al., 2016). Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign 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: Apr 23, 2022

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