ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.212+17T>C (rs369461674)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206754 SCV000262191 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-04 criteria provided, single submitter clinical testing
GeneDx RCV000423045 SCV000535141 likely benign not specified 2016-12-15 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.
Color Health, Inc RCV000775190 SCV000909416 likely benign Hereditary cancer-predisposing syndrome 2018-07-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000423045 SCV001623159 likely benign not specified 2021-05-17 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.212+17T>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. A recently published study evaluating splicing impact using semi-quantitative capillary electrophoresis, Sanger sequencing and allele-specific assays did not detect any abnormal transcripts indicative of no impact on splicing. This variant was classified as benign (Class 1 variant) following the ENIGMA guidelines (Montalban_2019). The variant was absent in 247566 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.212+17T>C has been reported in the literature in at-least one individual affected with stomach cancer who had a family history of various cancers (Montalban_2019). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. Four 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 (n=1)/likely benign (n=3). Based on the evidence outlined above, the variant was classified as likely benign.
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology RCV000206754 SCV000916381 benign Hereditary breast and ovarian cancer syndrome 2019-03-01 no assertion criteria provided research

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