Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000205616 | SCV000261300 | likely benign | Familial cancer of breast | 2025-01-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000440482 | SCV000518068 | likely benign | not specified | 2017-07-02 | 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. |
Ambry Genetics | RCV000570985 | SCV000663293 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-05 | 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 | RCV000205616 | SCV000786189 | likely benign | Familial cancer of breast | 2018-03-14 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000570985 | SCV000911676 | likely benign | Hereditary cancer-predisposing syndrome | 2017-12-24 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000440482 | SCV000919941 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000570985 | SCV002530699 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-26 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV000205616 | SCV004019187 | benign | Familial cancer of breast | 2023-03-30 | 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. |
Department of Pathology and Laboratory Medicine, |
RCV001355858 | SCV001550864 | likely benign | not provided | no assertion criteria provided | clinical testing | The PALB2 p.Leu823= variant (c.2469C>A, an alternate substitution) was identified in 1 of 1494 proband chromosomes (frequency: 0.0007) from Australian individuals or families with BRCA1/2 negative breast cancer (Teo 2013). The variant was also identified in ClinVar (classified likely benign by Invitae, GeneDx and Ambry Genetics) and Clinvitae (2x); and was not identified in dbSNP, Cosmic, MutDB, LOVD 3.0, Zhejiang Colon Cancer Database, the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The p.Leu823= 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, HumanSpliceFinder) 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. | |
Prevention |
RCV004530233 | SCV004709934 | likely benign | PALB2-related disorder | 2023-05-30 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |