Submissions for variant NM_007294.3(BRCA1):c.4504C>T (p.Pro1502Ser) (rs80357383)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000212183	SCV000210178	uncertain significance	not provided	2014-05-29	criteria provided, single submitter	clinical testing	This variant is denoted BRCA1 c.4504C>T at the cDNA level, p.Pro1502Ser (P1502S) at the protein level, and results in the change of a Proline to a Serine (CCA>TCA). This variant was predicted to create additional kinase binding sites, the clinical significance of which is unclear (Tram 2013). BRCA1 Pro1502Ser was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Proline and Serine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Pro1502Ser occurs at a position that is highly variable across species and is located in the SQ/TQ cluster domain (Roy 2012). In addition, in silico analyses predict that this variant is unlikely to alter protein structure or function. The variant is listed once in the Breast Information Core (BIC) database as having unknown significance. Based on currently available information, it is unclear whether BRCA1 Pro1502Ser is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics	RCV000214845	SCV000274417	uncertain significance	Hereditary cancer-predisposing syndrome	2015-03-09	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color	RCV000214845	SCV000909022	uncertain significance	Hereditary cancer-predisposing syndrome	2018-07-18	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112350	SCV000145110	uncertain significance	Breast-ovarian cancer, familial 1	2003-12-23	no assertion criteria provided	clinical testing

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