Submissions for variant NM_007294.4(BRCA1):c.3354_3355del (p.Gln1118fs)

dbSNP: rs397509059

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000256763	SCV000323595	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	RCV000256763	SCV000325629	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Invitae	RCV001232187	SCV001404733	pathogenic	Hereditary breast ovarian cancer syndrome	2019-10-29	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln1118Hisfs*3) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in individual(s) with breast and/or ovarian cancer (PMID: 16287141). ClinVar contains an entry for this variant (Variation ID: 54854). This variant is not present in population databases (ExAC no frequency).