ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4410A>C (p.Ile1470=) (rs747516635)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167320 SCV000218170 likely benign Hereditary cancer-predisposing syndrome 2014-12-19 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495669 SCV000578740 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Integrated Genetics/Laboratory Corporation of America RCV000587885 SCV000694771 likely benign not provided 2017-05-08 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.4410A>C (p.Ile1470Ile) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 3/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/119356 control chromosomes at a frequency of 0.0000251, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). An internal LCA sample reports the variant to co-occur with a pathogenic BRCA2 variant, c.8414_8416delinsC (p.Leu2805fsX6). In addition, multiple clinical diagnostic laboratories classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as "likely benign."
Invitae RCV000477575 SCV000560468 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-28 criteria provided, single submitter clinical testing

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