ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7565C>T (p.Ser2522Phe) (rs80358985)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045249 SCV000073262 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000587666 SCV000210429 likely benign not provided 2019-06-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21120943, 11873550, 19043619, 25782689, 15944772, 19471317, 24504028, 24556621, 29394989, 29884841)
Ambry Genetics RCV000162600 SCV000213021 likely benign Hereditary cancer-predisposing syndrome 2020-02-25 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s)
Color Health, Inc RCV000162600 SCV000683889 likely benign Hereditary cancer-predisposing syndrome 2018-06-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587666 SCV000695080 uncertain significance not provided 2017-07-18 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7565C>T (p.Ser2522Phe) variant located in the helical domain (Salgado_2005) involves the alteration of a conserved nucleotide and 5/5 in silico tools predict a damaging outcome for this variant. However, these predictions have yet to be functionally assessed. This variant was found in 1/120720 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). Multiple publications have cited the variant in affected individuals, however, with limited information (ie, lack of co-occurrence and/or cosegregation data). In addition, multiple clinical diagnostic laboratories cite the variant with conflicting classifications "likely benign" or "uncertain significance." Therefore, due to the limited available information, the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available (ie, clinical and functional studies).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587666 SCV001133908 uncertain significance not provided 2020-03-05 criteria provided, single submitter clinical testing
Mendelics RCV000031686 SCV001139186 benign Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031686 SCV000054293 likely benign Breast-ovarian cancer, familial 2 2012-04-27 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031686 SCV000147125 uncertain significance Breast-ovarian cancer, familial 2 2013-05-21 no assertion criteria provided clinical testing

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