ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2T>A (p.Met1Lys)

dbSNP: rs80358547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268575 SCV001447592 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV000496424 SCV003442054 pathogenic Hereditary breast ovarian cancer syndrome 2022-07-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change affects the initiator methionine of the BRCA2 mRNA. The next in-frame methionine is located at codon 124. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with breast cancer and/or personal or family history of breast and/or ovarian cancer (PMID: 14647210, 18182601, 21769658, 24156927, 24607278, 25330149; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 431282).
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496424 SCV000587524 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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