ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.1947dup (p.Glu650fs) (rs515726075)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre RCV000114502 SCV000267965 likely pathogenic Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
Color Health, Inc RCV000584219 SCV000690821 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584219 SCV001174409 pathogenic Hereditary cancer-predisposing syndrome 2019-08-19 criteria provided, single submitter clinical testing The c.1947dupA pathogenic mutation, located in coding exon 5 of the PALB2 gene, results from a duplication of A at nucleotide position 1947, causing a translational frameshift with a predicted alternate stop codon (p.E650Rfs*13). This alteration has been identified in multiple women affected with breast cancer (Teo ZL et al. Breast Cancer Res., 2013 Feb;15:R17; Thompson ER et al. Breast Cancer Res., 2015 Aug;17:111). Of note, this alteration is also designated as c.1947_1948insA in the reported literature. 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.
Leiden Open Variation Database RCV000114502 SCV001193172 pathogenic Familial cancer of breast 2019-05-13 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.

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