ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1384G>T (p.Glu462Ter) (rs1597096243)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001011273 SCV001171573 pathogenic Hereditary cancer-predisposing syndrome 2018-11-30 criteria provided, single submitter clinical testing The p.E462* pathogenic mutation (also known as c.1384G>T), located in coding exon 4 of the PALB2 gene, results from a G to T substitution at nucleotide position 1384. This changes the amino acid from a glutamic acid to a stop codon within coding exon 4. This alteration was observed with an allele frequency of 1 in 7051 unselected breast cancer patients and with an allele frequency of 1 in 11241 female controls of Japanese ancestry. (Momozawa Y et al. Nat Commun, 2018 Oct;9:4083). 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.
Cancer Genomics Group,Japanese Foundation For Cancer Research RCV001030652 SCV001193683 likely pathogenic Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Leiden Open Variation Database RCV001030221 SCV001193096 pathogenic not provided 2018-10-10 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa.

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