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

dbSNP: rs80358547

Total submissions: 3

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
Labcorp Genetics (formerly Invitae), Labcorp	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