ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.1685-2A>G (rs754660432)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568799 SCV000665096 likely pathogenic Hereditary cancer-predisposing syndrome 2016-07-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
GeneDx RCV000519126 SCV000618466 likely pathogenic not provided 2018-05-16 criteria provided, single submitter clinical testing This variant is denoted PALB2 c.1685-2A>G or IVS4-2A>G and consists of an A>G nucleotidesubstitution at the -2 position of intron 4 of the PALB2 gene. This variant destroys a canonical splice acceptor site andis predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant has been reported in at least one individual witha personal and family history of breast and/or ovarian cancer (Li 2016). Based on the currently available information,we consider PALB2 c.1685-2A>G to be a likely pathogenic variant

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