ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del) (rs80359736)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522717 SCV000618193 likely pathogenic not provided 2017-03-14 criteria provided, single submitter clinical testing This in-frame deletion of 126 nucleotides is denoted BRCA2 c.8975_9100del126 at the cDNA level, p.Pro2992_Thr3033del (P2992_T3033del) at the protein level, and results in the loss of 42 residues. The surrounding sequence is CGTC[del126]AGTA. Also reported as BRCA2 9203_9328del126 and 9203del126 using alternate nomenclature, this variant has been observed in at least six families with breast, ovarian, and/or pancreatic cancer and was shown to segregate with disease in one of these families (Slater 2010, Rath 2012). BRCA2 c.8975_9100del126 was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Even though this variant results in an in-frame transcript, the deleted region includes several residues that are conserved and it is located within the DNA binding domain (Yang 2002). Based on currently available evidence, we consider BRCA2 c.8975_9100del126 to be likely pathogenic.
Ambry Genetics RCV000566941 SCV000661444 likely pathogenic Hereditary cancer-predisposing syndrome 2018-03-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Good segregation with disease (lod 1.5-3 = 5-9 meioses),Structural Evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Significant disease association in appropriately sized case-control study(ies)
Sharing Clinical Reports Project (SCRP) RCV000082997 SCV000115071 likely pathogenic Breast-ovarian cancer, familial 2 2013-06-26 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000082997 SCV000147506 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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