NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys) AND Breast-ovarian cancer, familial 2

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

Germline classification:: Uncertain significance (4 submissions)
Last evaluated:: May 23, 2016
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000077403.3

Allele description

NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys)

Other names:

p.R2502C:CGC>TGC

HGVS:

NC_000013.11:g.32356496C>T
NG_012772.3:g.46017C>T
NM_000059.3:c.7504C>T
NP_000050.2:p.Arg2502Cys
LRG_293t1:c.7504C>T
LRG_293:g.46017C>T
LRG_293p1:p.Arg2502Cys
NC_000013.10:g.32930633C>T
U43746.1:n.7732C>T
p.R2502C

Protein change:

R2502C

Links:

dbSNP: rs55716624

GMAF:

0.0004(T), 55716624

NCBI 1000 Genomes Browser:

rs55716624

Allele Frequency:

0.00030(T), GO-ESP

Molecular consequence:

NM_000059.3:c.7504C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000109200	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Uncertain significance (Feb 9, 2007)	germline	clinical testing
SCV000147108	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Uncertain significance (May 29, 2002)	germline, unknown	clinical testing
SCV000296686	Quest Diagnostics Nichols Institute San Juan Capistrano,	criteria provided, single submitter (Quest pathogenicity assessment criteria)	Uncertain significance (May 23, 2016)	germline	clinical testing	PubMed (14) [See all records that cite these PMIDs] 22703879, 25782689, 25637381, 22034289, 22505045, 10882858, 17924331, 19043619, 22711857, 22874498, 23633455, 24055113, 26467025, 26295337
SCV000488326	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Apr 12, 2016)	unknown	clinical testing	PubMed (10) [See all records that cite these PMIDs] 11030417, 22505045, 22703879, 16550498, 19043619, 17924331, 22874498, 23633455, 22711857, 22034289 Counsyl Autosomal Dominant Disease Classification criteria (2015) Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
African	germline	yes	7	not provided	not provided	not provided	not provided	clinical testing
Ashkenazi, Latin American, Caribbean	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Caucasian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Latin American, Caribbean	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases.

Vail PJ, Morris B, van Kan A, Burdett BC, Moyes K, Theisen A, Kerr ID, Wenstrup RJ, Eggington JM.

J Community Genet. 2015 Oct;6(4):351-9. doi: 10.1007/s12687-015-0220-x. Epub 2015 Mar 18.

PubMed [citation]

PMID:: 25782689
PMCID:: PMC4567983

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, et al.

Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.

PubMed [citation]

PMID:: 25637381
PMCID:: PMC4352885

See all PubMed Citations (16)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000109200.4

#	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	1	not provided	not provided		not provided	not provided	not provided	See 1

Co-occurrences

#	Zygosity	Alleles	Number of Observations
1	SingleHeterozygote	BRCA1:D1818G	1

From Breast Cancer Information Core (BIC) (BRCA2), SCV000147108.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided
2	not provided	1	not provided	not provided	clinical testing	not provided
3	African	7	not provided	not provided	clinical testing	not provided
4	Ashkenazi, Latin American, Caribbean	1	not provided	not provided	clinical testing	not provided
5	Caucasian	1	not provided	not provided	clinical testing	not provided
6	Latin American, Caribbean	2	not provided	not provided	clinical testing	not provided
7	Western European	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		4	not provided	not provided	not provided
2	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		7	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
7	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano,, SCV000296686.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (14)

#	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 Counsyl, SCV000488326.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (10)

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

Last Updated: Sep 26, 2017

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