Submissions for variant NM_007294.4(BRCA1):c.2126_2127del (p.Phe709fs)

dbSNP: rs397508939

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)	RCV000257418	SCV000323399	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	RCV000213266	SCV000276240	pathogenic	Hereditary cancer-predisposing syndrome	2015-06-04	criteria provided, single submitter	clinical testing	The c.2126_2127delTT (also known as 2245delTT) pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of two nucleotides between nucleotide positions 2126 and 2127, causing a translational frameshift with a predicted alternate stop codon. This alteration was previously identified in one family with HBOC (Kroiss R, Hum. Mutat. 2005 Dec; 26(6):583-9). 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	RCV000257418	SCV000325246	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	RCV000496678	SCV000587187	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research