Submissions for variant NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter)

dbSNP: rs80356947

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000077602	SCV000299470	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	RCV000077602	SCV000326169	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Department of Medical Genetics, Oslo University Hospital	RCV000077602	SCV000564306	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-07-01	criteria provided, single submitter	clinical testing
Bioinformatics dept., Datar Cancer Genetics Limited, India	RCV000077602	SCV000584014	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2017-07-21	criteria provided, single submitter	clinical testing
Clinical Genetics and Genomics, Karolinska University Hospital	RCV001269949	SCV001450325	pathogenic	not provided	2016-10-07	criteria provided, single submitter	clinical testing
Invitae	RCV000496876	SCV002220057	pathogenic	Hereditary breast ovarian cancer syndrome	2021-03-29	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with a personal and/or family history of breast and/or ovarian cancer (PMID: 10874312, 29446198, 29339979). ClinVar contains an entry for this variant (Variation ID: 55420). This variant is present in population databases (rs80356947, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Gln172*) 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).
Unidad Asesoramiento Genetico Oncologico Falp, Instituto Oncologico Fundacion Arturo Lopez Perez	RCV000077602	SCV004024153	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2023-08-01	criteria provided, single submitter	clinical testing
Sharing Clinical Reports Project (SCRP)	RCV000077602	SCV000109405	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2012-01-06	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000077602	SCV000145605	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2013-03-25	no assertion criteria provided	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496876	SCV000587059	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001269949	SCV001744689	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001269949	SCV001957822	pathogenic	not provided		no assertion criteria provided	clinical testing
BRCAlab, Lund University	RCV000077602	SCV002589073	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2022-08-26	no assertion criteria provided	clinical testing