ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp) (rs183489969)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130354 SCV000185205 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre RCV000114588 SCV000268021 uncertain significance Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
Color RCV000130354 SCV000902643 benign Hereditary cancer-predisposing syndrome 2016-04-19 criteria provided, single submitter clinical testing
GeneDx RCV000212821 SCV000211527 likely benign not specified 2017-12-20 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.
GeneKor MSA RCV000130354 SCV000822112 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286032 SCV000396076 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000130354 SCV000396077 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586997 SCV000699582 likely benign not provided 2017-07-28 criteria provided, single submitter clinical testing Variant summary: The PALB2 c.3054G>C (p.Glu1018Asp) variant involves the alteration of a non-conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant. This variant was found in 38/125572 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.004275 (37/8654). This frequency is about 27 times 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 East Asian origin. While the variant has been reported in multiple affected individuals in the literature, none of the reports show strong evidence for causality (co-segregation data, co-occurrence data). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likley benign/benign, while others classify it as uncertain significance. Taken together, due to the relatively high frequency of this variant in the control population, this variant is classified as likely benign.
Invitae RCV000114588 SCV000253601 benign Familial cancer of breast 2018-01-12 criteria provided, single submitter clinical testing
PALB2 database RCV000114588 SCV000148534 uncertain significance Familial cancer of breast 2012-07-16 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.