ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5225_5230del (p.Asn1742_Ser1743del) (rs276174855)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine,University of Washington RCV000757935 SCV000886464 likely benign Hereditary breast and ovarian cancer syndrome 2018-05-29 criteria provided, single submitter research The BRCA2 variant designated as NM_000059.3: c.5225_5230del (p.Asn1742_Ser1743del) is classified as likely benign. This variant is not listed in population databases. Computer software programs predict that this variant is likely to be benign. This variant is found in exon 11, in a domain where non-truncating mutations are usually benign. Cosegregation analysis of one observed family was performed using analyze.myvariant.org (Rañola et al, 2018, PMID:28965303) resulting in a likelihood ratio of 0.22 to 1, providing additional evidence that the allele is likely to be benign (Thompson, et al., 2003, PMID:2900794). Bayesian analysis integrating all of this data (Tavtigian et al, 2018, PMID:29300386) gives about 3% probability of pathogenicity, which is consistent with a classification of likely benign. This variant is not predicted to alter BRCA2 function or modify cancer risk. This analysis was performed in conjunction with the family studies project as part of the University of Washington Find My Variant Study.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113408 SCV000146579 uncertain significance Breast-ovarian cancer, familial 2 2010-10-12 no assertion criteria provided clinical testing

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