Total submissions: 22
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076810 | SCV000108296 | no known pathogenicity | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | MAF >1% |
Eurofins Ntd Llc |
RCV000079104 | SCV000110973 | benign | not specified | 2018-03-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000130906 | SCV000185815 | benign | Hereditary cancer-predisposing syndrome | 2014-07-31 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Color Diagnostics, |
RCV000130906 | SCV000292094 | benign | Hereditary cancer-predisposing syndrome | 2014-11-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000079104 | SCV000304719 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000625385 | SCV000469732 | benign | Lynch syndrome 4 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
ARUP Laboratories, |
RCV000034616 | SCV000604896 | benign | not provided | 2023-11-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081087 | SCV000625528 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000079104 | SCV000711442 | benign | not specified | 2017-04-20 | criteria provided, single submitter | clinical testing | p.Thr485Lys in exon 11 of PMS2: This variant is not expected to have clinical si gnificance because it has been identified in 35% (3077/8632) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs1805323). |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000625385 | SCV000745192 | benign | Lynch syndrome 4 | 2017-05-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000625385 | SCV000785345 | benign | Lynch syndrome 4 | 2017-07-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000034616 | SCV001899117 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28932927, 28347324, 24728327) |
Sema4, |
RCV000130906 | SCV002529797 | benign | Hereditary cancer-predisposing syndrome | 2020-01-30 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV000625385 | SCV004016577 | benign | Lynch syndrome 4 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000625385 | SCV004043718 | benign | Lynch syndrome 4 | 2023-05-11 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance. |
All of Us Research Program, |
RCV000076810 | SCV004844211 | benign | Lynch syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034616 | SCV000043428 | no known pathogenicity | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Benign. |
ITMI | RCV000079104 | SCV000086044 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Department of Pathology and Laboratory Medicine, |
RCV001353499 | SCV000592935 | benign | Endometrial carcinoma | no assertion criteria provided | clinical testing | PMS2, EXON11, c.1454C>A, p. Thr485Lys, Benign (ACMG 5) The c.1454C>A variant was identified in 7 of 338 chromosomes (frequency: 0.021) from individuals or families with HNPCC and Lynch Syndrome exhibiting café-au-lait spots and cancer. (14756672_Thompson_2004, 15256438_Nakagawa_2004, 16472587_Hendriks_2006, 16619239_Clenndening_2006, 17993636_Gururangan_2008, 24027009_Drost_2013) The variant was also identified in dbSNP (ID: rs1805323 ) “With benign allele”, with a minor allele frequency of 0.112(1000 Genomes Project) HGMD, COSMIC, “Mismatch Repair Genes Variant Database”, “InSiGHT Colon Cancer Database”, ClinVar database as a benign variant by the Sharing Clinical Reports Project (SCRP) (submitted within the ClinVar database and derived from Myriad reports). The variant was classified as “unclassified” by a clinical laboratory within the Canadian Open Genetics Repository (http://opengenetics.ca/). This variant was identified in the 1000 Genomes Project in 247 of 2178 chromosomes (frequency: 0.113), and in Exome Variant Server project in 350 of 8600 (frequency: 0.041) European American and in 86 of 4406 (frequency: 0.019) African American alleles, increasing the likelihood that this is/may be a low frequency benign variant in certain populations of origin. This variant was identified in the Exome Aggregation Consortium database to have an allele frequency of 0.079. The p.Thr485Lys variant is not expected to have clinical significance because it is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. The p.Thr485 residue is not conserved in mammals and the variant amino acid Threonine (Thr) is present in Macaques, increasing the likelihood that this variant does not have clinical significance. In summary, based on the above information, this variant meets our laboratory's criteria to be classified as benign. | |
Mayo Clinic Laboratories, |
RCV000079104 | SCV000691973 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics Laboratory, |
RCV000079104 | SCV001906413 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000079104 | SCV001924426 | benign | not specified | no assertion criteria provided | clinical testing |