ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.379G>T (p.Ala127Ser)

dbSNP: rs80358621
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000580114 SCV000683582 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001318010 SCV001508697 likely benign Hereditary breast ovarian cancer syndrome 2023-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580114 SCV002620143 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-19 criteria provided, single submitter clinical testing The p.A127S variant (also known as c.379G>T), located in coding exon 3 of the BRCA2 gene, results from a G to T substitution at nucleotide position 379. The alanine at codon 127 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004803168 SCV005424238 uncertain significance BRCA2-related cancer predisposition 2024-09-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077313 SCV000109110 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2012-05-03 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077313 SCV000146714 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2002-06-20 no assertion criteria provided clinical testing

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