Submissions for variant NM_007294.3(BRCA1):c.5153-6C>T (rs80358129)

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000255183	SCV000321441	uncertain significance	not provided	2016-06-28	criteria provided, single submitter	clinical testing	This variant is denoted BRCA1 c.5153-6C>T or IVS17-6C>T and consists of a C>T nucleotide substitution at the -6 position of intron 17 of the BRCA1 gene. Using alternate nomenclature, this variant would be defined as BRCA1 5272-6C>T. This variant is not predicted to cause abnormal splicing; however, 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.5153-6C>T 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 cytosine (C) nucleotide that is altered is conserved through mammals. Based on currently available information, it is unclear whether BRCA1 c.5153-6C>T is pathogenic or benign. We consider it to be a variant of uncertain significance.