Total submissions: 29
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112663 | SCV000244520 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-01-12 | reviewed by expert panel | curation | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01626 (African), derived from 1000 genomes (2012-04-30). |
Invitae | RCV000167846 | SCV000077020 | benign | Hereditary breast ovarian cancer syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000112663 | SCV000153994 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2014-01-02 | criteria provided, single submitter | literature only | |
Eurofins Ntd Llc |
RCV000168524 | SCV000228063 | benign | not specified | 2015-07-08 | criteria provided, single submitter | clinical testing | |
Michigan Medical Genetics Laboratories, |
RCV000112663 | SCV000267721 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-04-21 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000167846 | SCV000494331 | benign | Hereditary breast ovarian cancer syndrome | 2014-04-07 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000463892 | SCV000540966 | benign | Familial cancer of breast | 2017-02-23 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811344 | SCV000602676 | benign | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000580840 | SCV000683320 | benign | Hereditary cancer-predisposing syndrome | 2014-12-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000168524 | SCV000806974 | benign | not specified | 2017-07-19 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000168524 | SCV001469398 | benign | not specified | 2020-06-14 | criteria provided, single submitter | clinical testing | |
National Health Laboratory Service, |
RCV000167846 | SCV002025895 | benign | Hereditary breast ovarian cancer syndrome | 2022-04-19 | criteria provided, single submitter | clinical testing | |
Genetics Program, |
RCV000167846 | SCV002515235 | benign | Hereditary breast ovarian cancer syndrome | 2021-11-01 | criteria provided, single submitter | research | |
Sema4, |
RCV000580840 | SCV002537860 | benign | Hereditary cancer-predisposing syndrome | 2020-05-21 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000168524 | SCV002550940 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000580840 | SCV002653862 | benign | Hereditary cancer-predisposing syndrome | 2014-11-18 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Fulgent Genetics, |
RCV002496719 | SCV002809065 | benign | Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S | 2022-03-10 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000112663 | SCV004016772 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001811344 | SCV004041994 | benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | BRCA1: BS1, BS2 |
Breast Cancer Information Core |
RCV000112663 | SCV000145527 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Pathway Genomics | RCV000112663 | SCV000189894 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2014-07-24 | no assertion criteria provided | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001353821 | SCV000591634 | benign | Malignant tumor of breast | no assertion criteria provided | clinical testing | The BRCA1 c.5468-10C>A variant was identified in 3 of 4550 proband chromosomes from individuals or families with breast or ovarian cancer (frequency: 0.001); however control chromosomes were not included in these studies (Borg 2010, Tommasi 2008, Uhrhammer 2008).The variant is located in the 3' splice region but does not affect the invariant -1 and -2 positions. However, positions -3 and -5 to -12 are part of the splicing consensus sequence and variants involving these positions sometimes affect splicing. One functional study did not find any effect of the variant on splicing (Houdayer 2012), and in-silico or computational prediction software (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predicts a greater than 10% difference in splicing in only 2 of 5 different programs, though this information is not predictive enough to rule out pathogenicity. The variant was also identified in HGMD, LOVD, and the BIC database (15X with unknown clinical importance), and UMD (31X as a neutral variant). In UMD the variant was identified in four samples as co-occurring a pathogenic variant (two in BRCA1 and two in BRCA2), increasing the likelihood that the variant does not have clinical importance. The variant was listed in dbSNP (ID: rs8176316) with a minor allele frequency of 0.004 (1000 Genomes Project) and an average heterozygosity of 0.007+/-0.060. Furthermore, this variant occurs at a frequency of greater than 1% in some populations of origin and is therefore classified as a polymorphism (African American alleles in the NHLBI Exome Sequencing Project (Exome Variant Server) (frequency: 0.014), HapMap-YRI (frequency: 0.018), HAPMAP-LWK (frequency: 0.017), and HAPMAP-ASW (frequency: 0.01)). In summary, based on the above information, this variant meets our laboratory's criteria to be classified as benign. | |
Brotman Baty Institute, |
RCV000112663 | SCV001237527 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro | ||
Clinical Genetics Laboratory, |
RCV000168524 | SCV001906339 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000168524 | SCV001932453 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000168524 | SCV001958801 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000168524 | SCV001974514 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000168524 | SCV002035600 | benign | not specified | no assertion criteria provided | clinical testing | ||
BRCAlab, |
RCV000112663 | SCV004243909 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2020-03-02 | no assertion criteria provided | clinical testing |