Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000214895 | SCV000274477 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Gene |
RCV001711509 | SCV000520922 | likely benign | not provided | 2020-01-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000465325 | SCV000560998 | benign | Familial cancer of breast | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000214895 | SCV000684614 | likely benign | Hereditary cancer-predisposing syndrome | 2016-09-16 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001147093 | SCV001307871 | uncertain significance | CHEK2-Related Cancer Susceptibility | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000440523 | SCV001448547 | likely benign | not specified | 2020-11-19 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000440523 | SCV004024322 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000465325 | SCV001553085 | likely benign | Familial cancer of breast | no assertion criteria provided | clinical testing | The CHEK2 p.Glu531= variant was not identified in the literature. The variant was identified in dbSNP (ID: rs758555487) as "With Likely benign allele ", and in ClinVar (classified as benign by Invitae; as likely benign by Ambry Genetics, GeneDx and Color). The variant was identified in control databases in 54 of 260100 chromosomes at a frequency of 0.0002 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 1 of 22578 chromosomes (freq: 0.00004), Other in 1 of 6276 chromosomes (freq: 0.000159), European in 1 of 121982 chromosomes (freq: 0.000008), and South Asian in 51 of 30512 chromosomes (freq: 0.002), while the variant was not observed in the Latino, Ashkenazi Jewish, East Asian, and Finnish, populations. The p.Glu531= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign. |