ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.441+18C>T (rs371973519)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085601 SCV000253504 benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000409822 SCV000488988 likely benign Breast-ovarian cancer, familial 1 2016-07-28 criteria provided, single submitter clinical testing
Color RCV000579959 SCV000683181 likely benign Hereditary cancer-predisposing syndrome 2016-06-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001000694 SCV000699146 benign not specified 2019-09-23 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.441+18C>T 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. 2/2 computational tools predict no significant impact on normal splicing, and these predictions were confirmed by an mRNA transcript analysis (Houdayer 2012). The variant allele was found at a frequency of 8.1e-05 in 258156 control chromosomes (gnomAD). This frequency is not higher than the expected maximum for a pathogenic variant in BRCA1 causing Hereditary Breast and Ovarian Cancer (8.1e-05 vs 0.001), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.441+18C>T in individuals affected with Hereditary Breast and Ovarian Cancer has been reported. Four other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as benign (1x) / likely benign (3x). Based on the evidence outlined above, the variant was classified as benign.
PreventionGenetics,PreventionGenetics RCV000589716 SCV000806951 likely benign not provided 2017-03-27 criteria provided, single submitter clinical testing
Mendelics RCV000409822 SCV001140636 likely benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000694 SCV001157733 benign not specified 2018-07-24 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000409822 SCV000733672 likely benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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