Submissions for variant NM_007294.3(BRCA1):c.548-3T>C (rs397507252)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000473116	SCV000549346	uncertain significance	Hereditary breast and ovarian cancer syndrome	2017-05-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000482750	SCV000571757	uncertain significance	not provided	2016-09-23	criteria provided, single submitter	clinical testing	This variant is denoted BRCA1 c.548-3T>C or IVS7-3T>C and consists of a T>C nucleotide substitution at the -3 position of intron 7 of the BRCA1 gene. Using alternate nomenclature, this variant would be defined as BRCA1 667-3T>C. In silico models are inconclusive with respect to splicing, and in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 c.548-3T>C was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The thymine (T) nucleotide that is altered is not conserved across species. Based on currently available evidence, it is unclear whether BRCA1 c.548-3T>C is pathogenic or benign. We consider it to be a variant of uncertain significance.
Counsyl	RCV000031258	SCV000786141	uncertain significance	Breast-ovarian cancer, familial 1	2018-03-07	criteria provided, single submitter	clinical testing
Color	RCV000771276	SCV000903423	likely benign	Hereditary cancer-predisposing syndrome	2015-04-14	criteria provided, single submitter	clinical testing
Sharing Clinical Reports Project (SCRP)	RCV000031258	SCV000053862	uncertain significance	Breast-ovarian cancer, familial 1	2010-05-24	no assertion criteria provided	clinical testing