nsv1067861 AND Breast adenocarcinoma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2002
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:: RCV000004183.5

Allele description [Variation Report for nsv1067861]

nsv1067861

Gene:

RB1CC1:RB1 inducible coiled-coil 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8q11

Genomic location:

Preferred name:

nsv1067861

HGVS:

NC_000008.10:g.53537321_53574220del

Note:

NCBI staff reviewed the sequence information reported in PubMed 12068296 Fig. 3B to determine the location of this allele on the current reference sequence.

Nucleotide change:

EX9-23 DEL

Links:

dbVar: nssv3761618; dbVar: nsv1067861; OMIM: 606837.0002

Condition(s)

Name:: Breast adenocarcinoma
Synonyms:: Breast cancer, somatic; Breast adenocarcinoma, somatic
Identifiers:: MONDO: MONDO:0004988; MedGen: C0858252

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024349	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2002)	somatic	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024349

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2002)

somatic

literature only

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

Help

Summary from all submissions

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

Citations

PubMed

Truncating mutations of RB1CC1 in human breast cancer.

Chano T, Kontani K, Teramoto K, Okabe H, Ikegawa S.

Nat Genet. 2002 Jul;31(3):285-8. Epub 2002 Jun 17.

PubMed [citation]

PMID:: 12068296

Details of each submission

From OMIM, SCV000024349.2

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

Description

For discussion of the deletion of exons 9-23 found in the RB1CC1 gene (nucleotides 1,757-5,187) that was found in compound heterozygous state in a tumor sample of primary breast cancer (114480) by Chano et al. (2002), see 606837.0001.

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

Last Updated: Apr 23, 2022

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