Submissions for variant NM_007294.4(BRCA1):c.3329_3330del (p.Lys1110fs)

dbSNP: rs80357525

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000077542	SCV000299920	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	RCV000077542	SCV000325612	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001800361	SCV002046153	pathogenic	not provided	2021-05-07	criteria provided, single submitter	clinical testing	This frameshift variant causes the premature termination of BRCA1 protein synthesis. In addition, it has been reported in an individual affected with breast cancer in the published literature (PMID: 15944772 (2005)). This variant has not been reported in large, multi-ethnic general populations. Based on the available information, this variant is classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000496574	SCV003441900	pathogenic	Hereditary breast ovarian cancer syndrome	2022-01-16	criteria provided, single submitter	clinical testing	This premature translational stop signal has been observed in individual(s) with hereditary breast cancer (PMID: 15944772). This variant is also known as 3448delAG. ClinVar contains an entry for this variant (Variation ID: 54841). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1110Thrfs*4) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
Sharing Clinical Reports Project (SCRP)	RCV000077542	SCV000109343	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2008-08-01	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000077542	SCV000144720	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2002-05-29	no assertion criteria provided	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496574	SCV000587298	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research