ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5075-1G>A (rs1800747)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480623 SCV000564746 pathogenic not provided 2018-06-25 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5075-1G>A or IVS16-1G>A and consists of a G>A nucleotide substitution at the -1 position of intron 16 of the BRCA1 gene. The variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant, also known as BRCA1 5194-1G>A and IVS17-1G>A using alternate nomenclature, has been reported in individuals suspected of having hereditary breast/ovarian cancer as well as in at least one individual with metastatic prostate cancer (Jara 2006, Pritchard 2016, Apessos 2018, Wang 2018). We consider this variant to be pathogenic.
Yang An-Suei Laboratory,Academia Sinica RCV000504600 SCV000575770 pathogenic Neoplasm of the breast criteria provided, single submitter research
Counsyl RCV000112485 SCV000677656 likely pathogenic Breast-ovarian cancer, familial 1 2017-05-04 criteria provided, single submitter clinical testing
Color RCV000579615 SCV000683249 likely pathogenic Hereditary cancer-predisposing syndrome 2018-09-03 criteria provided, single submitter clinical testing
GeneKor MSA RCV000585700 SCV000693543 pathogenic Familial cancer of breast 2018-08-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000496384 SCV000966916 likely pathogenic Hereditary breast and ovarian cancer syndrome 2019-02-01 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Breast Cancer Information Core (BIC) (BRCA1) RCV000112485 SCV000145296 pathogenic Breast-ovarian cancer, familial 1 1999-06-22 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496384 SCV000587455 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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