Submissions for variant NM_007294.3(BRCA1):c.1340_1341insG (p.His448fs) (rs80357597)

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)	RCV000111592	SCV000299583	pathogenic	Breast-ovarian cancer, familial 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	RCV000111592	SCV000325030	pathogenic	Breast-ovarian cancer, familial 1	2015-10-02	criteria provided, single submitter	clinical testing
Invitae	RCV000697117	SCV000825711	pathogenic	Hereditary breast and ovarian cancer syndrome	2018-02-12	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.His448Serfs*8) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual with a personal and/or family history of breast and/or ovarian cancer (PMID: 28324225). ClinVar contains an entry for this variant (Variation ID: 37401). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Mendelics	RCV000697117	SCV000839287	pathogenic	Hereditary breast and ovarian cancer syndrome	2018-07-02	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000111592	SCV000144062	pathogenic	Breast-ovarian cancer, familial 1	2006-05-05	no assertion criteria provided	clinical testing