ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2320A>G (p.Thr774Ala) (rs55968715)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131357 SCV000186333 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031362 SCV000146027 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000131357 SCV000902773 benign Hereditary cancer-predisposing syndrome 2016-08-01 criteria provided, single submitter clinical testing
Counsyl RCV000031362 SCV000488277 uncertain significance Breast-ovarian cancer, familial 2 2016-02-12 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120313 SCV000591799 benign not specified 2014-10-10 criteria provided, single submitter clinical testing
GeneDx RCV000120313 SCV000210576 likely benign not specified 2017-05-17 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.
ITMI RCV000120313 SCV000084465 not provided not specified 2013-09-19 no assertion provided reference population
Integrated Genetics/Laboratory Corporation of America RCV000120313 SCV000919040 likely benign not specified 2018-12-20 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.2320A>G (p.Thr774Ala) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.3e-05 in 245840 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2320A>G has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Haiman_2013, Cunningham_2014). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Co-occurrences with other pathogenic variant(s) have been reported (BRCA2 c.5576_5579delTTAA, p.Ile1859LysfsX3; BRCA1 c.3700_3704delGTAAA, p.Val1234GlnfsX8; BRCA1 c.4065_4068delTCAA, p.Asn1355LysfsX10), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four ClinVar submissions from other clinical diagnostic laboratories (evaluation after 2014) cite the variant as "likely benign/benign" (3x) and once as "uncertain significance." Based on the evidence outlined above, the variant was classified as likely benign.
Invitae RCV000225743 SCV000071987 benign Hereditary breast and ovarian cancer syndrome 2017-12-29 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000031362 SCV000267752 likely benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031362 SCV000053967 benign Breast-ovarian cancer, familial 2 2009-11-19 no assertion criteria provided clinical testing
True Health Diagnostics RCV000131357 SCV000787923 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 no assertion criteria provided clinical testing

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