ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5106A>G (p.Lys1702=) (rs1060504574)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000487079 SCV000560269 likely benign not provided 2018-10-30 criteria provided, single submitter clinical testing
GeneDx RCV000487079 SCV000570722 uncertain significance not provided 2016-06-19 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5106A>G at the DNA level. This variant is silent at the coding level, preserving a Lysine at codon 1702. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. BRCA1 c.5106A>G was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations.The nucleotide which is altered, an adenine (A) at base 5106, is not conserved. In silico splicing models are uninformative. Therefore, based on currently available information, it is unclear whether BRCA1 c.5106A>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV001023552 SCV001185451 likely benign Hereditary cancer-predisposing syndrome 2019-02-18 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001411236 SCV001613295 likely benign Hereditary breast and ovarian cancer syndrome 2018-10-30 criteria provided, single submitter clinical testing
Brotman Baty Institute,University of Washington RCV001077594 SCV001243546 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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