ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.765T>C (p.Asp255=) (rs45465299)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000114662 SCV000261168 likely benign Familial cancer of breast 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000215345 SCV000275084 likely benign Hereditary cancer-predisposing syndrome 2015-04-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338727 SCV000396126 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000215345 SCV000396127 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000422873 SCV000514023 likely benign not specified 2017-07-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000215345 SCV000686075 benign Hereditary cancer-predisposing syndrome 2016-01-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590553 SCV000699613 likely benign not provided 2016-09-06 criteria provided, single submitter clinical testing Variant summary: The PALB2 c.765T>C (p.Asp255Asp) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a benign outcome for this substitution along with 5/5 in silico tools via Alamut predicting the variant not to have an impact on normal splicing. This variant was found in 17/124694 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.0002248 (15/66738). This slightly exceeds the estimated maximal expected allele frequency of a pathogenic PALB2 variant (0.0001563), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. The variant was reported in breast cancer patients, however without strong evidence such as co-segregation; therefore these reports do not allow the establishment of a cause effect relationship between the variant and the disease. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as Likely Benign.
Counsyl RCV000114662 SCV000786231 likely benign Familial cancer of breast 2018-03-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590553 SCV000889595 likely benign not provided 2018-06-21 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000114662 SCV001193016 likely benign 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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