ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.788-1566dup (rs878853292)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000225498 SCV000282295 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000585651 SCV000693522 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV000692747 SCV000820587 pathogenic Hereditary breast and ovarian cancer syndrome 2018-06-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr978*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 236270). A different variant (c.2934T>G) giving rise to the same protein effect observed here (p.Tyr978*) has been reported in multiple individuals affected with breast and ovarian cancer (PMID: 9667663, 17591843, 11493753, 22399190, 15951957). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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