ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4358-10C>T (rs80358111)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159887 SCV000209971 benign not specified 2014-08-04 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.
Counsyl RCV000112326 SCV000220849 likely benign Breast-ovarian cancer, familial 1 2014-10-31 criteria provided, single submitter literature only
Invitae RCV000587967 SCV000252817 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000159887 SCV000591511 benign not specified 2013-08-12 criteria provided, single submitter clinical testing
Color RCV000579629 SCV000683175 benign Hereditary cancer-predisposing syndrome 2015-10-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587967 SCV000699139 benign not provided 2016-03-28 criteria provided, single submitter clinical testing Variant Summary: The c.4358-10C>T variant involves the alteration of a non-conserved nucleotide resulting in an intronic change. 5/5 in silico tools via Alamut predict no significant effect on splicing and an in vitro assay showed evidence that the variant does not affect splicing (Houdayer_2012). The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.023%, predominantly in individuals of Europeand and Latino origin (0.035%). The variant has been reported to co-occur with a different deleterious BRCA1/2 variants suggesting a non-pathogenic nature of this variant. Additionally, the variant has been reported in the homozygous state further supporting neutrality. Lastly, several reputable databases and clinical diagnostic labs have classifed the variant as "Benign". Taken together, this variant has been classified as Benign.
PreventionGenetics,PreventionGenetics RCV000587967 SCV000806950 likely benign not provided 2018-01-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112326 SCV000145073 benign Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology RCV000195733 SCV000916350 benign Hereditary breast and ovarian cancer syndrome 2019-03-01 no assertion criteria provided research

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