Submissions for variant NM_007294.4(BRCA1):c.2572C>T (p.Gln858Ter)

dbSNP: rs397508983

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)	RCV000257400	SCV000323482	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.
Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University	RCV000240752	SCV000265859	pathogenic	Breast neoplasm	2015-11-01	criteria provided, single submitter	research
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000257400	SCV000325400	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Clinical Genetics and Genomics, Karolinska University Hospital	RCV001270000	SCV001450410	pathogenic	not provided	2018-10-26	criteria provided, single submitter	clinical testing
Invitae	RCV002515734	SCV003441935	pathogenic	Hereditary breast ovarian cancer syndrome	2022-12-31	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln858*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54607). This premature translational stop signal has been observed in individual(s) with hereditary breast and/or ovarian cancer (PMID: 28724667, 30702160). This variant is not present in population databases (gnomAD no frequency).
BRCAlab, Lund University	RCV000257400	SCV004244086	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2020-03-02	no assertion criteria provided	clinical testing