ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.134+2T>C (rs80358131)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218784 SCV000273439 pathogenic Hereditary cancer-predisposing syndrome 2015-01-14 criteria provided, single submitter clinical testing The c.134+2T>C intronic pathogenic mutation (also known as IVS3+2T>C)results from a T to C substitution two nucleotides after coding exon 2 in the BRCA1 gene. This alteration has been previously reported and classified as pathogenic in the ClinVar database by the Sharing Clinical Reports Project (SCRP) (available from www.ncbi.nlm.nih.gov/clinvar/. Accessed 01/14/2015).Since alterations that disrupt the canonical splice donor site are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000077064 SCV000296417 pathogenic Breast-ovarian cancer, familial 1 2015-12-26 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077064 SCV000325026 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000466215 SCV000549384 pathogenic Hereditary breast and ovarian cancer syndrome 2020-07-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the BRCA1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 91547). Experimental studies have shown that this variant disrupts mRNA splicing and/or protein function (PMID: 30209399). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Color Health, Inc RCV000218784 SCV000682950 likely pathogenic Hereditary cancer-predisposing syndrome 2019-03-31 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV001664243 SCV001877333 pathogenic Breast-ovarian cancer, familial 2; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 2021-05-01 criteria provided, single submitter curation
Sharing Clinical Reports Project (SCRP) RCV000077064 SCV000108861 pathogenic Breast-ovarian cancer, familial 1 2007-11-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077064 SCV000144419 pathogenic Breast-ovarian cancer, familial 1 2010-09-12 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000077064 SCV001241931 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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