ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.2959_2966dup (p.Glu990fs) (rs875989792)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre RCV000532289 SCV000267969 likely pathogenic Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
Invitae RCV000532289 SCV000633393 pathogenic Familial cancer of breast 2017-04-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 990 (p.Glu990Asnfs*3) of the PALB2 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature in an individual affected with a PALB2-related disease, loss-of-function variants in PALB2 are known to be pathogenic (PMID: 25099575, 17200668). This variant is also known as c.2966_2967insCAACAAGT in the literature. For these reasons, this variant has been classified as Pathogenic.

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