ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6550C>G (p.Gln2184Glu) (rs80358887)

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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 RCV000129780 SCV000184589 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113608 SCV000146882 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000129780 SCV000910911 likely benign Hereditary cancer-predisposing syndrome 2016-08-18 criteria provided, single submitter clinical testing
Counsyl RCV000113608 SCV000488122 uncertain significance Breast-ovarian cancer, familial 2 2016-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000587939 SCV000210393 uncertain significance not provided 2016-04-27 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.6550C>G at the cDNA level, p.Gln2184Glu (Q2184E) at the protein level, and results in the change of a Glutamine to a Glutamic Acid (CAG>GAG). Using alternate nomenclature, this variant would be defined as BRCA2 6778C>G. This variant was observed in a patient with early onset breast cancer (El Saghir 2015). BRCA2 Gln2184Glu was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Since Glutamine and Glutamic Acid differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Gln2184Glu occurs at a position that is not conserved and is not located in a known functional domain. In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether BRCA2 Gln2184Glu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000587939 SCV000694980 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6550C>G (p.Gln2184Glu) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a benign outcome for this variant. This variant was found in 4/120142 control chromosomes at a frequency of 0.0000333, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant has been reported in affected individual without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as VUS and one lab classified it as likely benign, all without evidence for independent evaluation. Taken together, this variant is classified as VUS.
Invitae RCV000044982 SCV000072995 likely benign Hereditary breast and ovarian cancer syndrome 2016-11-03 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113608 SCV000297544 likely benign Breast-ovarian cancer, familial 2 2010-03-11 no assertion criteria provided clinical testing

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