Submissions for variant NM_007294.4(BRCA1):c.689_692del (p.Glu230fs)

dbSNP: rs886040308

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000256998	SCV000323896	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	RCV000256998	SCV000326392	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Invitae	RCV000702912	SCV000831788	pathogenic	Hereditary breast ovarian cancer syndrome	2023-07-08	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu230Glyfs*3) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 266567). For these reasons, this variant has been classified as Pathogenic.
Mendelics	RCV000702912	SCV000839297	pathogenic	Hereditary breast ovarian cancer syndrome	2018-07-02	criteria provided, single submitter	clinical testing
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center	RCV000778173	SCV000914332	pathogenic	Familial cancer of breast	2019-01-30	criteria provided, single submitter	research
Mendelics	RCV000256998	SCV001140625	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2019-05-28	criteria provided, single submitter	clinical testing