ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.2982dup (p.Ala995fs) (rs180177127)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre RCV000114576 SCV000267970 likely pathogenic Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
Ambry Genetics RCV000213482 SCV000273157 pathogenic Hereditary cancer-predisposing syndrome 2016-08-31 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000114576 SCV000290857 pathogenic Familial cancer of breast 2018-06-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala995Cysfs*16) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in individuals with breast cancer  (PMID: 17200668, 23448497, 26283626, 26534844) and pancreatic cancer (PMID: 19264984). ClinVar contains an entry for this variant (Variation ID: 126697). 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.
Counsyl RCV000114576 SCV000487937 likely pathogenic Familial cancer of breast 2015-12-09 criteria provided, single submitter clinical testing
Color RCV000213482 SCV000685997 pathogenic Hereditary cancer-predisposing syndrome 2016-12-05 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000114576 SCV001193319 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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