ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4566C>A (p.Tyr1522Ter)

dbSNP: rs886040234
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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) RCV000257421 SCV000323774 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257421 SCV000325995 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000812636 SCV000952956 pathogenic Hereditary breast ovarian cancer syndrome 2018-11-08 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in an individual affected with breast cancer (PMID: 25480878). ClinVar contains an entry for this variant (Variation ID: 266480). This sequence change creates a premature translational stop signal (p.Tyr1522*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.

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