Submissions for variant NM_007294.4(BRCA1):c.2437G>T (p.Gly813Ter)

dbSNP: rs80357186

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)	RCV000111862	SCV000282280	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2016-04-22	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	RCV000111862	SCV000325358	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000496570	SCV001582790	pathogenic	Hereditary breast ovarian cancer syndrome	2018-05-19	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 54570). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly813*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics	RCV002453359	SCV002737554	pathogenic	Hereditary cancer-predisposing syndrome	2018-06-25	criteria provided, single submitter	clinical testing	The p.G813* pathogenic mutation (also known as c.2437G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 2437. This changes the amino acid from a glycine to a stop codon within coding exon 9. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Breast Cancer Information Core (BIC) (BRCA1)	RCV000111862	SCV000144436	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion criteria provided	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496570	SCV000587218	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research