ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1266G>A (p.Glu422=) (rs138049175)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162549 SCV000212959 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Color RCV000162549 SCV000686115 benign Hereditary cancer-predisposing syndrome 2015-09-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174014 SCV000225239 benign not specified 2015-02-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000174014 SCV000596476 benign not specified 2017-06-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625105 SCV000743783 likely benign Hereditary nonpolyposis colorectal cancer type 4 2017-03-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625105 SCV000745845 benign Hereditary nonpolyposis colorectal cancer type 4 2017-06-05 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587785 SCV000697287 benign not provided 2016-02-01 criteria provided, single submitter clinical testing Variant summary: The c.1266G>A variant affects a non-conserved nucleotide, resulting in no amino acid change. One in-silico tool predicts damaging outcome for this variant. This variant is found in 116/120402 control chromosomes at a frequency of 0.0009634, which is about 8 times of maximal expected frequency of a pathogenic allele (0.0001136), suggesting this variant is benign. Sequence alignment suggests alleles identified in ExAC controls are unlikely from PMS2 pseudogenes. In addition, two clinical laboratories classified this variant as benign. Taken together, this variant was classified as benign.
Invitae RCV000205473 SCV000261980 benign Hereditary nonpolyposis colon cancer 2017-12-29 criteria provided, single submitter clinical testing
PreventionGenetics RCV000174014 SCV000304716 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000162549 SCV000788100 likely benign Hereditary cancer-predisposing syndrome 2017-09-29 no assertion criteria provided clinical testing

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