ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6739A>G (p.Ser2247Gly) (rs80358896)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163090 SCV000213595 likely benign Hereditary cancer-predisposing syndrome 2017-08-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Breast Cancer Information Core (BIC) (BRCA2) RCV000031645 SCV000146919 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000163090 SCV000911017 benign Hereditary cancer-predisposing syndrome 2016-05-02 criteria provided, single submitter clinical testing
Counsyl RCV000031645 SCV000488677 uncertain significance Breast-ovarian cancer, familial 2 2016-05-20 criteria provided, single submitter clinical testing
GeneDx RCV000045034 SCV000210633 likely benign not specified 2017-06-07 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.
Integrated Genetics/Laboratory Corporation of America RCV000587555 SCV000694991 uncertain significance not provided 2016-09-09 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6739A>G (p.Ser2247Gly) variant causes a missense change involving a non-conserved nucleotide with 3/4 in silico tools (SNPs&GO not captured due to low reliability index) predicting a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 3/121178 (1/40387), which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333. The variant of interest has been reported in multiple affected individuals via publications. In addition, the variant of interest has been reported to co-occur with another likely pathogenic BRCA1 variant, c.3700_3704delGTAA (p.Val1234fsX8 - classified pathogenic) and c.5096G>A (p.Arg1699Gln - classified likely pathogenic), therefore suggesting a potentially benign role. In addition, multiple reputable clinical laboratories classify the variant as "likely benign." Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as a VUS-possibly benign until additional information becomes available.
Invitae RCV000225747 SCV000073047 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-10 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000587555 SCV000778700 likely benign not provided 2017-02-17 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031645 SCV000054252 likely benign Breast-ovarian cancer, familial 2 2011-02-25 no assertion criteria provided clinical testing

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