Submissions for variant NM_000059.4(BRCA2):c.632-16A>C

gnomAD frequency: 0.00003  dbSNP: rs81002905

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000206038	SCV000259430	benign	Hereditary breast ovarian cancer syndrome	2023-12-19	criteria provided, single submitter	clinical testing
Counsyl	RCV000031618	SCV000785416	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2017-07-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001705617	SCV001895769	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001778670	SCV002015181	likely benign	not specified	2024-02-26	criteria provided, single submitter	clinical testing	Variant summary: BRCA2 c.632-16A>C alters a nucleotide located at a position not widely known to affect splicing. Several computational tools predict a significant impact on normal splicing: Two predict the variant strengthens a 3' acceptor site. The variant allele was found at a frequency of 8.3e-06 in 239796 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.632-16A>C has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Thomassen_2011, Caux-Moncoutier_2011, Infante_2006, and Velasco_2005). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 15937982, 16758124, 21120943, 21769658, 31343793). ClinVar contains an entry for this variant (Variation ID: 38036). Based on the evidence outlined above, the variant was classified as likely benign.
Sharing Clinical Reports Project (SCRP)	RCV000031618	SCV000054225	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2012-05-02	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000031618	SCV000147343	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2	2002-05-29	no assertion criteria provided	clinical testing
Hereditary Cancer Genetics group, Vall d'Hebron Institute of Oncology	RCV000206038	SCV000916363	benign	Hereditary breast ovarian cancer syndrome	2019-03-01	no assertion criteria provided	research