ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.865A>G (p.Asn289Asp) (rs766173)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045592 SCV000073605 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000164485 SCV000215132 likely benign Hereditary cancer-predisposing syndrome 2018-05-10 criteria provided, single submitter clinical testing In silico models in agreement (benign);Co-occurence with mutation in same gene (phase unknown)
Counsyl RCV000031759 SCV000488144 uncertain significance Breast-ovarian cancer, familial 2 2016-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000441052 SCV000512335 likely benign not specified 2016-11-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000164485 SCV000683990 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589996 SCV000695170 likely benign not provided 2016-08-22 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.865A>G (p.Asn289Asp) variant involves the alteration of a not conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. This variant was found in 25/120576 control chromosomes at a frequency of 0.0002073, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). However, the variant has been observed in a family listed in kConFab database in which it co-occurred with another pathogenic BRCA2 variant (p.Ser1955X) and in two internal LCA samples, where it co-occurred with the same (p.Ser1955X) pathogenic BRCA2 variant. These co-occurrences suggest that in these individuals the variant either resides in cis with the pathogenic BRCA2 variant and is a passenger SNP or, if the variant resides in trans with the pathogenic BRCA2 variant than the c.865A>G is benign because otherwise these patients would have presented with Fanconi anemia. The variant of interest has been observed in HBOC spectrum patients however, due to limited co-segregation and phenotypic information these observations do not permit establishment of a cause-effect relationship between the variant and HBOC. Furthermore, a publication (Cunningham_2014) and a reputable clinical diagnostic laboratory classify the variant as "polymorphic/likely benign; three other clinical labs classified this variant as VUS, all without evidence to independently evaluate. Considering all evidences, this variant was classified as a probably benign until additional information becomes available.
Sharing Clinical Reports Project (SCRP) RCV000031759 SCV000054367 uncertain significance Breast-ovarian cancer, familial 2 2008-07-02 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031759 SCV000145782 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000589996 SCV000778638 uncertain significance not provided 2017-12-20 no assertion criteria provided clinical testing

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