Submissions for variant NM_007294.3(BRCA1):c.3143G>A (p.Gly1048Asp) (rs80356899)

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Total submissions: 7

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000129517	SCV000184292	uncertain significance	Hereditary cancer-predisposing syndrome	2017-09-07	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx	RCV000588811	SCV000321427	uncertain significance	not provided	2018-11-20	criteria provided, single submitter	clinical testing	This variant is denoted BRCA1 c.3143G>A at the cDNA level, p.Gly1048Asp (G1048D) at the protein level, and results in the change of a Glycine to an Aspartic Acid (GGT>GAT). Using alternate nomenclature, this variant would be defined as BRCA1 3262G>A. This variant has been reported in at least two individuals undergoing clinical testing for hereditary breast and ovarian cancer (Anczukow 2005, Judkins 2005). BRCA1 Gly1048Asp was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the DNA binding domain and in a region reported to interact with RAD51 (Chen 1998, Narod 2004). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether BRCA1 Gly1048Asp is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000255426	SCV000600318	uncertain significance	not specified	2017-05-11	criteria provided, single submitter	clinical testing
Integrated Genetics/Laboratory Corporation of America	RCV000588811	SCV000699005	uncertain significance	not provided	2016-02-01	criteria provided, single submitter	clinical testing
Counsyl	RCV000112008	SCV000785538	uncertain significance	Breast-ovarian cancer, familial 1	2017-09-06	criteria provided, single submitter	clinical testing
Mendelics	RCV000709476	SCV000839258	uncertain significance	Hereditary breast and ovarian cancer syndrome	2018-07-02	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112008	SCV000144648	uncertain significance	Breast-ovarian cancer, familial 1	2002-05-29	no assertion criteria provided	clinical testing

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