NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly) AND Transitional cell carcinoma of the bladder

Clinical significance:Likely pathogenic (Last evaluated: May 31, 2016)
Review status:(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Help

Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000438307.1

Allele description [Variation Report for NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly)]

NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly)

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.4336C>G (p.Arg1446Gly)

HGVS:

NC_000016.10:g.3738617G>C
NG_009873.2:g.147097C>G
NM_001079846.1:c.4222C>G
NM_004380.3:c.4336C>GMANE SELECT
NP_001073315.1:p.Arg1408Gly
NP_004371.2:p.Arg1446Gly
LRG_1426t1:c.4336C>G
LRG_1426:g.147097C>G
LRG_1426p1:p.Arg1446Gly
NC_000016.9:g.3788618G>C
NG_009873.1:g.146504C>G

Protein change:

R1408G

Links:

dbSNP: rs398124146

NCBI 1000 Genomes Browser:

rs398124146

Molecular consequence:

NM_001079846.1:c.4222C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004380.3:c.4336C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Transitional cell carcinoma of the bladder
Identifiers:: MONDO: MONDO:0005611; MedGen: C0279680; Human Phenotype Ontology: HP:0006740

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000505969	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (May 31, 2016)	somatic	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000505969

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(May 31, 2016)

somatic

literature only

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

Citation Link

Summary from all submissions

Help

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

Chang MT, Asthana S, Gao SP, Lee BH, Chapman JS, Kandoth C, Gao J, Socci ND, Solit DB, Olshen AB, Schultz N, Taylor BS.

Nat Biotechnol. 2016 Feb;34(2):155-63. doi: 10.1038/nbt.3391. Epub 2015 Nov 30.

PubMed [citation]

PMID:: 26619011
PMCID:: PMC4744099

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505969.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Feb 13, 2023

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