ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro) (rs149522412)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129725 SCV000184530 benign Hereditary cancer-predisposing syndrome 2016-03-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene,In silico models in agreement (benign)
Color RCV000129725 SCV000902672 likely benign Hereditary cancer-predisposing syndrome 2015-01-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000589520 SCV000860568 uncertain significance not provided 2018-04-10 criteria provided, single submitter clinical testing
GeneDx RCV000121763 SCV000211524 likely benign not specified 2018-02-28 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.
ITMI RCV000121763 SCV000085961 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000129725 SCV000396083 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397940 SCV000396084 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589520 SCV000699578 likely benign not provided 2017-07-06 criteria provided, single submitter clinical testing Variant summary: The PALB2 c.2851T>C (p.Ser951Pro) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 28/119132 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.001765 (18/10200). This frequency is about 11 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 African origin. This variant has been reported in affected individuals without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign/VUS, all without evidence for independent evaluaiton. Taken together, this variant is classified as likely benign.
Invitae RCV000114570 SCV000219017 benign Familial cancer of breast 2018-01-16 criteria provided, single submitter clinical testing
PALB2 database RCV000114570 SCV000148516 uncertain significance Familial cancer of breast 2012-07-16 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000121763 SCV000601773 uncertain significance not specified 2016-10-06 criteria provided, single submitter clinical testing

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