ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.135-5T>C (rs587781916)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130259 SCV000185103 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000236507 SCV000253495 likely benign not provided 2018-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000236507 SCV000292716 uncertain significance not provided 2016-02-16 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.135-5T>C or IVS3-5T>C and consists of a T>C nucleotide substitution at the -5 position of intron 3 of the BRCA1 gene. Using alternate nomenclature, this variant would be defined as BRCA1 254-5T>C. This variant is not predicted to cause abnormal splicing; however, 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.135-5T>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 conserved across species. Based on currently available information, it is unclear whether BRCA1 c.135-5T>C is pathogenic or benign. We consider it to be a variant of uncertain significance.
Mendelics RCV000200745 SCV000839315 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000989914 SCV001140646 uncertain significance Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing

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