ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.80+4A>T (rs80358003)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465110 SCV000549296 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-04-03 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the BRCA1 gene. It does not directly change the encoded amino acid sequence of the BRCA1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 125519). Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001027051 SCV001189551 pathogenic Hereditary cancer-predisposing syndrome 2019-10-14 criteria provided, single submitter clinical testing Deficient protein function in appropriate functional assay(s);Functionally-validated splicing mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes);Well-characterized mutation at same position
Breast Cancer Information Core (BIC) (BRCA1) RCV000111708 SCV000144211 uncertain significance Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000111708 SCV001237795 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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