ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5333-8C>T (rs80358084)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000587578 SCV000289826 benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501072 SCV000591615 uncertain significance not specified 2013-05-13 criteria provided, single submitter clinical testing
Color RCV000582283 SCV000688627 likely benign Hereditary cancer-predisposing syndrome 2017-11-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587578 SCV000699242 likely benign not provided 2016-08-11 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.5333-8C>T variant involves the alteration of a non-conserved intronic nucleotide with 5/5 splice prediction tools predicting no significant impact on splicing or ESE binding, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2/120812 (1/60406), which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA1 variant of 1/1000. The variant of interest has been reported in affected individuals including one co-occurrence with a BRCA2 pathogenic variant, c.8537_8538delAG (p.Glu2846fsX22 - classified as pathogenic by LCA). In addition, multiple reputable clinical laboratories/databases and publications classify the variant as "likely benign/neutral." Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as likely benign until additional information becomes available.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112623 SCV000145466 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112623 SCV000189347 likely benign Breast-ovarian cancer, familial 1 2013-07-11 no assertion criteria provided clinical testing
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology RCV000233774 SCV000916358 benign Hereditary breast and ovarian cancer syndrome 2019-03-01 no assertion criteria provided research

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