NM_000321.3(RB1):c.2117G>T (p.Cys706Phe) AND Small cell lung carcinoma

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 14, 2015
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:: RCV000419273.1

Allele description [Variation Report for NM_000321.3(RB1):c.2117G>T (p.Cys706Phe)]

NM_000321.3(RB1):c.2117G>T (p.Cys706Phe)

Gene:

RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.2

Genomic location:

Preferred name:

NM_000321.3(RB1):c.2117G>T (p.Cys706Phe)

HGVS:

NC_000013.11:g.48463741G>T
NG_009009.1:g.164995G>T
NM_000321.3:c.2117G>TMANE SELECT
NP_000312.2:p.Cys706Phe
LRG_517:g.164995G>T
NC_000013.10:g.49037877G>T

Protein change:

C706F

Links:

dbSNP: rs121913295

NCBI 1000 Genomes Browser:

rs121913295

Molecular consequence:

NM_000321.3:c.2117G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Small cell lung carcinoma
Synonyms:: Small cell lung cancer; SMALL CELL CANCER OF THE LUNG, SOMATIC; Lung oat cell carcinoma
Identifiers:: MONDO: MONDO:0008433; MeSH: D055752; MedGen: C0149925; Orphanet: 70573; OMIM: 182280; Human Phenotype Ontology: HP:0030357

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000505678	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (Jul 14, 2015)	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

SCV000505678

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(Jul 14, 2015)

somatic

literature only

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

Citation Link

Help

Summary from all submissions

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

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE, Garcia E, Shivdasani P, Ducar M, Adusumilli R, Breneiser M, Byrne M, Chung L, Conneely J, Crosby L, Garraway LA, Gong X, Hahn WC, Hatton C, Kantoff PW, Kluk M, Kuo F, Jia Y, Joshi R, Longtine J, Manning A, Palescandolo E, et al.

J Mol Diagn. 2014 Nov;16(6):660-72. doi: 10.1016/j.jmoldx.2014.06.004. Epub 2014 Aug 23.

PubMed [citation]

PMID:: 25157968
PMCID:: PMC4210463

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505678.1

#	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: Nov 5, 2022

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