ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7641A>G (p.Lys2547=)

dbSNP: rs1555286393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003645009 SCV004465615 likely benign Hereditary breast ovarian cancer syndrome 2023-11-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000503163 SCV000592134 likely benign Malignant tumor of breast no assertion criteria provided clinical testing The BRCA2 p.Lys2547Lys variant was not identified in the literature, nor was it identified in the dbSNP, HGMD, LOVD, COSMIC, UMD, or BIC databases. The variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as predicted benign.

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