ClinVar Miner

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

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Total submissions: 7
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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 Lines of evidence used in support of classification: Other acmg-defined mutation (i.e. initiation codon or gross deletion),Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
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 likely pathogenic Hereditary breast and ovarian cancer syndrome 2016-12-20 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 mRNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a BRCA1-related disease. It has been reported in two individuals in the Breast Cancer Information Core database (PMID: 10923033), where it is also known as IVS3+2T>C. ClinVar contains an entry for this variant (Variation ID: 91547). In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in BRCA1 are known to be pathogenic (PMID: 20104584). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
Color RCV000218784 SCV000682950 likely pathogenic Hereditary cancer-predisposing syndrome 2018-07-31 criteria provided, single submitter clinical testing
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

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