ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5332+15G>C (rs80358148)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423617 SCV000512321 likely benign not specified 2017-09-07 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.
Invitae RCV000458423 SCV000560232 likely benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Color RCV000580168 SCV000683290 likely benign Hereditary cancer-predisposing syndrome 2017-03-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000423617 SCV000699237 likely benign not specified 2019-04-27 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.5332+15G>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. The variant allele was found at a frequency of 1.6e-05 in 251236 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.5332+15G>C in individuals affected with Hereditary Breast and Ovarian Cancer has been reported in the peer-reviewed literature. However, at-least one database (BIC) listed this variant as found in affected patient diagnosed with breast cancer at 53 and in unaffected duaghter". At least one publication reports experimental evidence evaluating an impact on splicing. These results showed no damaging effect of this variant on splicing that have also been further corroborated by other studies reporting no impact on homology directed repair (primary evidence unavailable). Three 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.
Mendelics RCV000112614 SCV001140473 likely benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112614 SCV000145456 uncertain significance Breast-ovarian cancer, familial 1 2001-07-17 no assertion criteria provided clinical testing

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