ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.860dup (p.Ser288fs) (rs864622301)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204478 SCV000260038 pathogenic Familial cancer of breast 2020-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser288Lysfs*15) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in individual(s) with breast cancer (PMID: 26283626). ClinVar contains an entry for this variant (Variation ID: 219897). Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 24136930, 25099575). For these reasons, this variant has been classified as Pathogenic.
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre RCV000204478 SCV000267964 likely pathogenic Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
Ambry Genetics RCV001018084 SCV001179268 pathogenic Hereditary cancer-predisposing syndrome 2018-10-18 criteria provided, single submitter clinical testing The c.860dupT pathogenic mutation, located in coding exon 4 of the PALB2 gene, results from a duplication of T at nucleotide position 860, causing a translational frameshift with a predicted alternate stop codon (p.S288Kfs*15). This alteration was identified in 1/1996 high risk breast cancer patients and 0/1998 unaffected controls (Thompson ER et al. Breast Cancer Res. 2015 Aug;17:111). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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