ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.548-3T>C (rs397507252)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473116 SCV000549346 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-05-05 criteria provided, single submitter clinical testing
GeneDx RCV000482750 SCV000571757 uncertain significance not provided 2016-09-23 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.548-3T>C or IVS7-3T>C and consists of a T>C nucleotide substitution at the -3 position of intron 7 of the BRCA1 gene. Using alternate nomenclature, this variant would be defined as BRCA1 667-3T>C. In silico models are inconclusive with respect to splicing, and in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 c.548-3T>C was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The thymine (T) nucleotide that is altered is not conserved across species. Based on currently available evidence, it is unclear whether BRCA1 c.548-3T>C is pathogenic or benign. We consider it to be a variant of uncertain significance.
Counsyl RCV000031258 SCV000786141 uncertain significance Breast-ovarian cancer, familial 1 2018-03-07 criteria provided, single submitter clinical testing
Color RCV000771276 SCV000903423 likely benign Hereditary cancer-predisposing syndrome 2015-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000771276 SCV001186134 likely benign Hereditary cancer-predisposing syndrome 2019-10-11 criteria provided, single submitter clinical testing In silico models in agreement (benign);Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay;RNA Studies
Sharing Clinical Reports Project (SCRP) RCV000031258 SCV000053862 uncertain significance Breast-ovarian cancer, familial 1 2010-05-24 no assertion criteria provided clinical testing

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