Submissions for variant NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter)

dbSNP: rs886038001

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000240974	SCV000299792	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	RCV000240974	SCV000325404	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
GeneKor MSA	RCV000585697	SCV000693520	pathogenic	not provided	2020-01-01	criteria provided, single submitter	clinical testing	This variant is a single amino acid change from Glutamine to a Termination codon at amino acid residue 867 of the BRCA1 gene. It results in a truncated non-functional protein. Truncating variants in the BRCA1 gene are known to be pathogenic. The mutation database ClinVar contains entries for this variant (Variation ID: 254414).
Invitae	RCV000637361	SCV000758816	pathogenic	Hereditary breast ovarian cancer syndrome	2021-03-23	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been reported in an individual with breast cancer in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 254414). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln867*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics	RCV001016055	SCV001176966	pathogenic	Hereditary cancer-predisposing syndrome	2017-02-09	criteria provided, single submitter	clinical testing	The p.Q867* pathogenic mutation (also known as c.2599C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 2599. This changes the amino acid from a glutamine 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.
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV000637361	SCV002025975	pathogenic	Hereditary breast ovarian cancer syndrome	2021-11-16	criteria provided, single submitter	clinical testing
Research and Experiment Center, Meizhou People's Hospital	RCV002518559	SCV003760905	pathogenic	Familial cancer of breast		no assertion criteria provided	clinical testing
BRCAlab, Lund University	RCV000240974	SCV004244085	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2020-03-02	no assertion criteria provided	clinical testing