Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000129519 | SCV000184295 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-11 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Other data supporting benign classification;Subpopulation frequency in support of benign classification |
Invitae | RCV001080801 | SCV000260613 | benign | Hereditary nonpolyposis colorectal neoplasms | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000121564 | SCV000515732 | likely benign | not specified | 2017-10-16 | 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 | RCV000129519 | SCV000685041 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-30 | criteria provided, single submitter | clinical testing | |
Cancer Genomics Group, |
RCV001030484 | SCV001193638 | uncertain significance | Hereditary breast and ovarian cancer syndrome | 2019-05-01 | criteria provided, single submitter | research | |
Integrated Genetics/Laboratory Corporation of America | RCV000121564 | SCV001363056 | benign | not specified | 2019-10-10 | criteria provided, single submitter | clinical testing | Variant summary: MSH2 c.2425G>A (p.Glu809Lys) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00027 in 251372 control chromosomes, predominantly at a frequency of 0.0038 within the East Asian subpopulation in the gnomAD database. The observed variant frequency within East Asian control individuals in the gnomAD database is approximately 7-fold the estimated maximal expected allele frequency for a pathogenic variant in MSH2 causing Lynch Syndrome phenotype (0.00057), strongly suggesting that the variant is a benign polymorphism found primarily in populations of East Asian origin. c.2425G>A has been reported in the literature in individuals affected with Lynch Syndrome (Jiang_2019, Liu_2014, Pinard_2016, Tang_2009, Toh_2018, Xie_2018), predominantly in individuals of Asian origin. A database cites the variant to co-occur with a pathogenic variant in MSH2 (c.942+3A>T) and indicated that the variant did not cosegregate with disease in a family. Four ClinVar submissions (evaluation after 2014) cite the variant three times as likely benign and once as benign. Based on the evidence outlined above, the variant was classified as benign. |
Biesecker Lab/Clinical Genomics Section, |
RCV000034556 | SCV000043346 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |
ITMI | RCV000121564 | SCV000085758 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Ding PR Lab, |
RCV001093691 | SCV001250875 | uncertain significance | Lynch syndrome I | no assertion criteria provided | clinical testing |