ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5278-14C>G (rs80358105)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000470071 SCV000540990 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077162 SCV000145433 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Color RCV000580942 SCV000683280 likely benign Hereditary cancer-predisposing syndrome 2015-07-20 criteria provided, single submitter clinical testing
Counsyl RCV000077162 SCV000154025 likely benign Breast-ovarian cancer, familial 1 2014-03-12 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000077162 SCV000744587 likely benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000421300 SCV000591607 likely benign not specified 2015-10-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000077162 SCV000733589 likely benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
GeneDx RCV000421300 SCV000512318 benign not specified 2015-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000421300 SCV000918752 likely benign not specified 2018-05-09 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.5278-14C>G alters a non-conserved nucleotide resulting in intronic change at a position not widely known to affect normal splicing. 5/5 computational tools predict no significant impact on normal splicing, which were confirmed by multiple studies. The frequency of this variant in general population (gnomAD dataset) is lower than expected for a pathogenic variant in BRCA1 causing Hereditary Breast and Ovarian Cancer (3.3e-05 vs 0.001), allowing no conclusion about variant significance. The c.5278-14C>G has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer. These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Co-occurrences with other pathogenic variant(s) have been reported (BRCA2 c.5722_5723delCT, p.Leu1908Argfs (BIC); BRCA2 unspecified (van der Hout_2006)), providing supporting evidence for a benign role. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Invitae RCV000206737 SCV000260046 benign Hereditary breast and ovarian cancer syndrome 2017-12-15 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000077162 SCV000195939 likely benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077162 SCV000108959 likely benign Breast-ovarian cancer, familial 1 2011-01-18 no assertion criteria provided clinical testing

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