ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter) (rs118203999)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129469 SCV000184239 pathogenic Hereditary cancer-predisposing syndrome 2015-05-12 criteria provided, single submitter clinical testing
GeneDx RCV000657596 SCV000779336 pathogenic not provided 2017-10-17 criteria provided, single submitter clinical testing This variant is denoted PALB2 c.2962C>T at the cDNA level and p.Gln988Ter (Q988X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. PALB2 Gln988Ter has been reported in individuals with familial breast cancer and in the parent of a child with Fanconi anemia (Reid 2007, Hellebrand 2011, Hofstatter 2011). This variant is considered pathogenic.
Counsyl RCV000662710 SCV000785458 pathogenic Familial cancer of breast 2017-08-15 criteria provided, single submitter clinical testing
Invitae RCV000662710 SCV000835984 pathogenic Familial cancer of breast 2018-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln988*) 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 observed in individuals affected with breast cancer (PMID: 21365267, 21618343). ClinVar contains an entry for this variant (Variation ID: 1246). 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.
OMIM RCV000001306 SCV000021456 pathogenic Fanconi anemia, complementation group N 2007-02-01 no assertion criteria provided literature only
OMIM RCV000001307 SCV000021457 risk factor Breast cancer, susceptibility to 2007-02-01 no assertion criteria provided literature only

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