Submissions for variant NM_007294.4(BRCA1):c.1159dup (p.Ser387fs)

dbSNP: rs397508842

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)	RCV000661292	SCV000783558	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2017-12-15	reviewed by expert panel	curation	Variant allele predicted to encode a truncated non-functional protein.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003529952	SCV004296848	pathogenic	Hereditary breast ovarian cancer syndrome	2022-12-07	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: 54150). This variant is also known as 1275insT. This premature translational stop signal has been observed in individual(s) with ovarian cancer (PMID: 10634513). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser387Phefs*4) 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).
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000577514	SCV000679516	not provided	Familial cancer of breast		no assertion provided	literature only