ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5153-1G>C (rs80358137)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA1) RCV000031224 SCV000145353 pathogenic Breast-ovarian cancer, familial 1 1999-12-30 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031224 SCV000326181 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031224 SCV000244388 pathogenic Breast-ovarian cancer, familial 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 1
Integrated Genetics/Laboratory Corporation of America RCV000048827 SCV000699211 pathogenic Hereditary breast and ovarian cancer syndrome 2016-08-29 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.5153-1G>C variant involves the alteration of a conserved intronic nucleotide located in a known splice site with 5/5 splice prediction tools predict the loss of a splice site, although these predictions have yet to be functionally assessed. The variant of interest has not been observed in controls (ExAC, 1000 Gs, or ESP) and has been reported in multiple affected individuals. In addition, multiple reputable databases/clinical laboratories cite the variant as "pathogenic." Therefore, the variant of interest has been classified as Pathogenic.
Invitae RCV000048827 SCV000076840 pathogenic Hereditary breast and ovarian cancer syndrome 2018-11-14 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 17 of the BRCA1 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (rs80358137, ExAC no frequency). This variant has been reported in the literature in many individuals and families affected with breast cancer (PMID: 8644702, 19912264, 25896959), and is reported as a putative founder mutation in the Spanish population (PMID: 23199084). Based on a multifactorial likelihood algorithm using genetic data, this variant has been determined to have a high probability of being pathogenic (PMID: 21990134, 17924331). This variant is also known as 5272-1G>C in the literature. ClinVar contains an entry for this variant (Variation ID: 37643). Experimental studies have shown that this splice site change results in altered splicing, which leads to an introduction of a premature termination codon (PMID: 20215541). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000031224 SCV000296294 pathogenic Breast-ovarian cancer, familial 1 2015-02-17 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031224 SCV000053824 likely pathogenic Breast-ovarian cancer, familial 1 2007-06-13 no assertion criteria provided clinical testing

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