Submissions for variant NM_007294.4(BRCA1):c.2973_2979del (p.Lys991fs)

dbSNP: rs397509030

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000257125	SCV000323547	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2016-10-18	reviewed by expert panel	curation	Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics	RCV000223360	SCV000273546	pathogenic	Hereditary cancer-predisposing syndrome	2015-01-19	criteria provided, single submitter	clinical testing	The c.2973_2979delAACTAAA pathogenic mutation (also known as 3092del7), located in coding exon 9 of the BRCA1 gene, results from a deletion of 7 nucleotides between positions 2973 and 2979 causing a translational frameshift with a predicted alternate stop codon. This mutation has been reported in a female of mixed European ancestry diagnosed with ovarian cancer (Risch HA et al. J. Natl. Cancer Inst. 2006 Dec; 98(23):1694-706). In addition to the clinical data presented in the literature, since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000257125	SCV000325512	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496868	SCV000587265	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research