ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.1048+17A>G (rs80358180)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082538 SCV000166584 benign Hereditary breast and ovarian cancer syndrome 2020-12-07 criteria provided, single submitter clinical testing
Counsyl RCV000112323 SCV000489255 likely benign Breast-ovarian cancer, familial 1 2016-09-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000476948 SCV000540982 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000503206 SCV000602695 benign not specified 2017-02-22 criteria provided, single submitter clinical testing
Color Health, Inc RCV000208968 SCV000683174 likely benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000503206 SCV001338265 benign not specified 2021-03-19 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.4357+17A>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. 4/4 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 250958 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4357+17A>G has been reported in the literature in individuals affected with breast cancer (e.g. Borg_2010, Trujilliano_2014). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. At-least one co-occurrence with another pathogenic variant(s) have been observed at our laboratory (BRCA2 c.3599_3600delGT, p.Cys1200*), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. 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 benign.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112323 SCV000145067 uncertain significance Breast-ovarian cancer, familial 1 2006-07-19 no assertion criteria provided clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000208968 SCV000264988 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353514 SCV000591510 uncertain significance not provided no assertion criteria provided clinical testing

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