Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003993842 | SCV004812912 | likely benign | CDH1-related diffuse gastric and lobular breast cancer syndrome | 2023-08-28 | reviewed by expert panel | curation | The NM_004360.5:c.1500C>T (p.Gly500=) variant results in a synonymous amino acid variant within exon 10. This variant is present at an allele frequency of 0.00002828 (8/282862) in gnomAD v2.1.1, with a maximum frequency of 0.0003508 (7/19954) in the East Asian subpopulation. The variant has been observed in more than 10 (97) individuals without DGC, SRC tumours or LBC and whose families do not suggest HDGC (BS2). This variant occurs at a nucleotide that is not predicted to alter splicing or protein function by multiple in silico predictors (BP7, BP4). In summary, this variant meets criteria to be classified as likely benign based on the ACMG/AMP criteria applied as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BS2, BP4, BP7. |
Ambry Genetics | RCV000162599 | SCV000213019 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Counsyl | RCV000411626 | SCV000489219 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2016-09-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000731865 | SCV000515793 | likely benign | not provided | 2019-09-17 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27616075) |
Labcorp Genetics |
RCV000411626 | SCV000557424 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2023-12-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162599 | SCV000684362 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-23 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000731865 | SCV000859721 | uncertain significance | not provided | 2018-02-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000731865 | SCV001245992 | uncertain significance | not provided | 2019-11-01 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162599 | SCV002529069 | benign | Hereditary cancer-predisposing syndrome | 2020-11-29 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV000411626 | SCV004019998 | benign | Hereditary diffuse gastric adenocarcinoma | 2023-03-06 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
True Health Diagnostics | RCV000162599 | SCV000787976 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-10 | no assertion criteria provided | clinical testing |