ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.548-18T>G (rs397507251)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199187 SCV000253517 likely benign Hereditary breast and ovarian cancer syndrome 2020-12-06 criteria provided, single submitter clinical testing
Counsyl RCV000031257 SCV000489289 likely benign Breast-ovarian cancer, familial 1 2016-09-15 criteria provided, single submitter clinical testing
GeneDx RCV000430923 SCV000520400 likely benign not specified 2015-10-29 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000430923 SCV000602717 likely benign not specified 2017-01-14 criteria provided, single submitter clinical testing
Color Health, Inc RCV000776173 SCV000911278 likely benign Hereditary cancer-predisposing syndrome 2017-03-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000430923 SCV000918800 likely benign not specified 2021-05-01 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.548-18T>G 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. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2e-05 in 249704 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.548-18T>G in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Five 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 likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Sharing Clinical Reports Project (SCRP) RCV000031257 SCV000053861 uncertain significance Breast-ovarian cancer, familial 1 2007-12-12 no assertion criteria provided clinical testing

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