ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7805+6C>G (rs81002819)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045315 SCV000073328 benign Hereditary breast and ovarian cancer syndrome 2020-12-04 criteria provided, single submitter clinical testing
Counsyl RCV000077412 SCV000154087 likely benign Breast-ovarian cancer, familial 2 2014-03-18 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174984 SCV000226399 benign not specified 2014-08-04 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000077412 SCV000267810 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000045315 SCV000494369 benign Hereditary breast and ovarian cancer syndrome 2014-03-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000174984 SCV000602796 benign not specified 2019-03-06 criteria provided, single submitter clinical testing
Color Health, Inc RCV000580581 SCV000683909 benign Hereditary cancer-predisposing syndrome 2015-03-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000174984 SCV000805768 benign not specified 2017-03-20 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077412 SCV000109210 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077412 SCV000147186 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000174984 SCV000592144 benign not specified no assertion criteria provided clinical testing The c.7805+6C>G variant was shown to produce a wildtype transcript in an m RNA based assay using lymphocyte cell lines of variant carriers, who met requirements for clinical testing or research into familial aspects of breast cancer; with aberrant in vitro transcripts accurately predicted by splice prediction programs (Whiley 2011). The variant was also identified in dbSNP (ID: rs81002819) “With other allele”, with a minor allele frequency of 0.001 (1000 Genomes Project), and the BIC database (19X with unknown clinical importance). The variant was identified by the Exome Variant Server project in 43 of 4406 African American alleles (frequency: 0.01). The variant was identified in UMD (12X as an unclassified variant) with co-occurring pathogenic variants: BRCA1 c.3607C>T (p.Arg1203X), BRCA2 c.7679_7680delTT (p.Phe2560SerfsX5), and BRCA2 c.2627delA (p.Asn876IlefsX19, increasing the likelihood that the c.7805+6C>G variant does not have clinical significance. The variant was also identified by the Sharing Clinical Reports Project (SCRP) (submitted within the ClinVar database and derived from Myriad reports) 2X (1X by multiple submitters (SCRP as benign, and BIC as uncertain) and 1X by Invitae, classification not provided). The c.7805+6C>G variant is located in the 5' splice region but does not affect the invariant +1 and +2 positions. However, positions +3 to +6 are part of the splicing consensus sequence and variants involving these positions sometimes affect splicing. In silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information, this variant meets our laboratoy’s criteria to be classified as benign.

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