Submissions for variant NM_007294.4(BRCA1):c.2751del (p.Lys918fs)

dbSNP: rs886040068

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)	RCV000257196	SCV000323510	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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000257196	SCV000325455	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
GeneDx	RCV004812315	SCV005437520	pathogenic	not provided	2024-06-13	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 2870del; This variant is associated with the following publications: (PMID: 30968603, 31472684, 36385461, 33194720)
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496698	SCV000587253	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research