NM_007294.3(BRCA1):c.140G>A (p.Cys47Tyr) AND Familial cancer of breast

delete

Germline classification:: not provided (1 submission)
Last evaluated:: Feb 1, 2013
Review status:: no classification 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:: RCV000047468.2

Allele description

NM_007294.3(BRCA1):c.140G>A (p.Cys47Tyr)

Gene:

BRCA1:BRCA1, DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.3(BRCA1):c.140G>A (p.Cys47Tyr)

HGVS:

NC_000017.11:g.43106528C>T
NG_005905.2:g.111456G>A
NM_007294.3:c.140G>A
NM_007297.3:c.-2G>A
NP_009225.1:p.Cys47Tyr
LRG_292t1:c.140G>A
LRG_292:g.111456G>A
LRG_292p1:p.Cys47Tyr
NC_000017.10:g.41258545C>T
NR_027676.1:n.301G>A

Protein change:

C47Y

Links:

dbSNP: rs80357150

NCBI 1000 Genomes Browser:

rs80357150

Molecular consequence:

NM_007297.3:c.-2G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_007294.3:c.140G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.1:n.301G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: CHEK2-Related Breast Cancer
Identifiers:: MedGen: C0346153; OMIM: 114480

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000075481	Invitae,	no classification provided	not provided	germline	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

SCV000075481

Invitae,

no classification provided

not provided

germline

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	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families.

Gad S, Caux-Moncoutier V, Pagès-Berhouet S, Gauthier-Villars M, Coupier I, Pujol P, Frénay M, Gilbert B, Maugard C, Bignon YJ, Chevrier A, Rossi A, Fricker JP, Nguyen TD, Demange L, Aurias A, Bensimon A, Stoppa-Lyonnet D.

Oncogene. 2002 Oct 3;21(44):6841-7.

PubMed [citation]

PMID:: 12360411

Details of each submission

From Invitae,, SCV000075481.2

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 7, 2017

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