ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.486G>A (p.Val162=) (rs769213707)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480995 SCV000572263 uncertain significance not provided 2016-11-11 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.486G>A at the DNA level. Although this variant is silent at the coding level, preserving a Valine at codon 162, it is predicted to result in the creation of a cryptic splice donor site. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. BRCA1 c.486G>A 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.The nucleotide which is altered, a guanine (G) at base 486, is not conserved. Based on currently available information, it is unclear whether BRCA1 c.486G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000480995 SCV001127046 likely benign not provided 2018-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023176 SCV001185011 likely benign Hereditary cancer-predisposing syndrome 2018-02-20 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001496772 SCV001701483 likely benign Hereditary breast and ovarian cancer syndrome 2018-11-22 criteria provided, single submitter clinical testing

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