ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9905G>A (p.Arg3302Lys) (rs80359249)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509696 SCV000607783 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000083164 SCV000145727 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000509696 SCV000689233 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-21 criteria provided, single submitter clinical testing
Counsyl RCV000083164 SCV000785011 uncertain significance Breast-ovarian cancer, familial 2 2017-03-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588627 SCV000695278 uncertain significance not provided 2017-04-21 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9905G>A (p.Arg3302Lys) variant involves the alteration of a conserved nucleotide, resulting in a missense substitution and 4/5 in silico tools predict a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing but ESE finder predicts that this variant may introduce an SF2/ASF ESE site at the locus. However, functional studies have shown that the variant has not effect on splicing via RNA analysis from a patient blood sample (Houdayer_2012). This variant was found in the large control database ExAC at a frequency of 0.0000082 (1/121326 control chromosomes), which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant with differing interpretations, "uncertain significance" and "likely benign." Taken together, this variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available (ie, clinical and functional studies).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506876 SCV000600883 uncertain significance not specified 2016-12-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588627 SCV000889196 uncertain significance not provided 2018-05-04 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083164 SCV000115238 likely benign Breast-ovarian cancer, familial 2 2012-06-14 no assertion criteria provided clinical testing

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