Submissions for variant NM_007294.4(BRCA1):c.1728dup (p.Glu577fs)

dbSNP: rs397507192

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)	RCV000031009	SCV000299639	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.
Invitae	RCV001388816	SCV001589965	pathogenic	Hereditary breast ovarian cancer syndrome	2022-06-20	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: 37428). This premature translational stop signal has been observed in individual(s) with personal and/or family history of breast and/or ovarian cancer (PMID: 26187060). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu577Argfs*9) 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).
CeGaT Center for Human Genetics Tuebingen	RCV001725937	SCV001961695	pathogenic	not provided	2021-09-01	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV002226448	SCV002505522	pathogenic	Ovarian carcinoma	2022-04-14	criteria provided, single submitter	clinical testing	_x000D_ Criteria applied: PVS1, PS4_MOD, PM2_SUP
Sharing Clinical Reports Project (SCRP)	RCV000031009	SCV000053602	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2008-04-07	no assertion criteria provided	clinical testing