Submissions for variant NM_007294.4(BRCA1):c.5341G>T (p.Glu1781Ter)

dbSNP: rs397509268

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)	RCV000083220	SCV000300244	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	RCV000083220	SCV000326285	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003529971	SCV004297787	pathogenic	Hereditary breast ovarian cancer syndrome	2023-03-04	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 55542). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 20727672). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1781*) 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)	RCV000083220	SCV000115294	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2012-05-01	no assertion criteria provided	clinical testing
Brotman Baty Institute, University of Washington	RCV000083220	SCV001242662	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	in vitro
CZECANCA consortium	RCV001270977	SCV001451783	pathogenic	Breast and/or ovarian cancer	2019-06-11	no assertion criteria provided	clinical testing