Submissions for variant NM_007294.4(BRCA1):c.2424del (p.Phe808fs)

dbSNP: rs397507200

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000031048	SCV000299766	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2016-09-08	reviewed by expert panel	curation	Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000031048	SCV000325353	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453277	SCV002737417	pathogenic	Hereditary cancer-predisposing syndrome	2021-06-12	criteria provided, single submitter	clinical testing	The c.2424delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2424, causing a translational frameshift with a predicted alternate stop codon (p.F808Lfs*7). This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Sharing Clinical Reports Project (SCRP)	RCV000031048	SCV000053642	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2009-09-04	no assertion criteria provided	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496548	SCV000587215	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research