NM_000059.3(BRCA2):c.8537_8538delAG (p.Glu2846Glyfs) AND Breast-ovarian cancer, familial 2

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (7 submissions)
Last evaluated:: Jul 14, 2015
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:: RCV000009915.12

Allele description

NM_000059.3(BRCA2):c.8537_8538delAG (p.Glu2846Glyfs)

Gene:

BRCA2:BRCA2, DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.3(BRCA2):c.8537_8538delAG (p.Glu2846Glyfs)

Other names:

8761delAG

HGVS:

NC_000013.11:g.32371005_32371006delAG
NG_012772.3:g.60526_60527delAG
NM_000059.3:c.8537_8538delAG
NP_000050.2:p.Glu2846Glyfs
LRG_293t1:c.8537_8538delAG
LRG_293:g.60526_60527delAG
LRG_293p1:p.Glu2846Glyfs
NC_000013.10:g.32945142_32945143delAG
NG_012772.1:g.60526_60527delAG
NM_000059.3:c.8533_8534delAG
NM_000059.3:c.8537_8538del
U43746.1:n.8761_8762delAG
U43746.1:n.8765_8766delAG
p.E2846GFS*22
p.E2846GfsX22
p.Glu2846Glyfs*22
p.Glu2846GlyfsX22

Nucleotide change:

8765delAG

Links:

Breast Cancer Information Core (BIC) (BRCA2): 8761&base_change=del AG; Breast Cancer Information Core (BIC) (BRCA2): 8765&base_change=del AG; OMIM: 600185.0012; dbSNP: rs80359714; dbSNP: rs80359716

NCBI 1000 Genomes Browser:

rs80359714

Molecular consequence:

NM_000059.3:c.8537_8538delAG - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

107

Condition(s)

Name:

Breast-ovarian cancer, familial 2 (BROVCA2)

Synonyms:

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2

Identifiers:

MedGen: C2675520; Orphanet: 145; OMIM: 612555

Age of onset:

All ages

Prevalence:

1-9 / 100 000 Orphanet: 145
Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. http://www.ncbi.nlm.nih.gov/books/NBK1247

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030136	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 1998)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8673090, 9634522
SCV000054357	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Apr 22, 2013)	germline	clinical testing
SCV000147394	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline	clinical testing
SCV000147396	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline, unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000189901	Pathway Genomics	no assertion criteria provided	Pathogenic (Jul 24, 2014)	germline	clinical testing	PubMed (9) [See all records that cite these PMIDs] 16047344, 23199084, 17591843, 8673090, 21324516, 18489799, 19619314, 9792861, 9634522
SCV000219410	Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository (COGR)	no assertion criteria provided (Clinical testing)	Pathogenic	germline	clinical testing
SCV000296650	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest pathogenicity assessment criteria)	Pathogenic (Jul 14, 2015)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 17640379, 21324516, 26467025, 26295337

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	15	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	27	not provided	not provided	27	not provided	clinical testing, literature only
not provided	not provided	yes	3	not provided	not provided	not provided	not provided	clinical testing
Caucasian	germline	yes	12	not provided	not provided	not provided	not provided	clinical testing
Caucasian Non Hispanic	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
French Canadian	germline	yes	14	not provided	not provided	not provided	not provided	clinical testing
French Canadian	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	23	not provided	not provided	not provided	not provided	clinical testing
Western European, French Canadian	germline	yes	7	not provided	not provided	not provided	not provided	clinical testing
Western European, Native American	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European, Native American, French Canadian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European, Near Eastern	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European, Portuguese, French Canadian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic.

Foretova L, Machackova E, Navratilova M, Pavlu H, Hruba M, Lukesova M, Valik D.

Hum Mutat. 2004 Apr;23(4):397-8.

PubMed [citation]

PMID:: 15024741

Spectrum and prevalence of BRCA1 and BRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital-based screening.

Palomba G, Pisano M, Cossu A, Budroni M, Dedola MF, Farris A, Contu A, Baldinu P, Tanda F, Palmieri G.

Cancer. 2005 Sep 15;104(6):1172-9.

PubMed [citation]

PMID:: 16047344

See all PubMed Citations (13)

Details of each submission

From OMIM, SCV000030136.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Phelan et al. (1996) identified an 8765delAG mutation in the BRCA2 gene in 2 French Canadian patients whose families included 22 females with breast cancer (BROVCA2; 612555) only, with mean age of diagnosis of 49.2 years. Lerer et al. (1998) found the same mutation in 3 Yemenite Jewish families with breast cancer; haplotype analysis indicated that the mutation was derived from a common ancestor.

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

From Sharing Clinical Reports Project (SCRP), SCV000054357.6

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	27	not provided	not provided		not provided	not provided	not provided	See 1

Co-occurrences

#	Zygosity	Alleles	Number of Observations
1	SingleHeterozygote	BRCA1:IVS2-6T>C	1

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147394.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided
2	Caucasian	1	not provided	not provided	clinical testing	not provided

#	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		2	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147396.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	10	not provided	not provided	clinical testing	PubMed (1)
2	not provided	1	not provided	not provided	clinical testing	PubMed (1)
3	not provided	2	not provided	not provided	clinical testing	PubMed (1)
4	not provided	3	not provided	not provided	clinical testing	PubMed (1)
5	Caucasian	11	not provided	not provided	clinical testing	PubMed (1)
6	Caucasian Non Hispanic	1	not provided	not provided	clinical testing	PubMed (1)
7	French Canadian	14	not provided	not provided	clinical testing	PubMed (1)
8	French Canadian	1	not provided	not provided	clinical testing	PubMed (1)
9	Western European	23	not provided	not provided	clinical testing	PubMed (1)
10	Western European, French Canadian	7	not provided	not provided	clinical testing	PubMed (1)
11	Western European, Native American	1	not provided	not provided	clinical testing	PubMed (1)
12	Western European, Native American, French Canadian	1	not provided	not provided	clinical testing	PubMed (1)
13	Western European, Near Eastern	1	not provided	not provided	clinical testing	PubMed (1)
14	Western European, Portuguese, French Canadian	1	not provided	not provided	clinical testing	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		10	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
4	unknown	yes	not provided	not provided	not provided		3	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		11	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
7	germline	yes	not provided	not provided	not provided		14	not provided	not provided	not provided
8	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
9	germline	yes	not provided	not provided	not provided		23	not provided	not provided	not provided
10	germline	yes	not provided	not provided	not provided		7	not provided	not provided	not provided
11	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
12	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
13	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
14	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Pathway Genomics, SCV000189901.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

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

From Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository (COGR), SCV000219410.1

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

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296650.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: Aug 29, 2016

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