Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000179411 | SCV000171273 | benign | not specified | 2014-04-01 | 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. |
Eurofins Ntd Llc |
RCV000179411 | SCV000231657 | likely benign | not specified | 2015-01-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000204059 | SCV000262322 | benign | Breast-ovarian cancer, familial, susceptibility to, 4 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000204059 | SCV000488984 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 4 | 2016-07-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000580868 | SCV000686460 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587972 | SCV000698106 | benign | not provided | 2016-02-15 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000587972 | SCV000889824 | benign | not provided | 2022-09-30 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000179411 | SCV002071944 | likely benign | not specified | 2019-04-25 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000580868 | SCV002534822 | benign | Hereditary cancer-predisposing syndrome | 2020-10-23 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV000580868 | SCV002637879 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-19 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV003149870 | SCV003838195 | likely benign | Breast and/or ovarian cancer | 2022-05-18 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000204059 | SCV004017723 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 4 | 2023-04-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. |
Ce |
RCV000587972 | SCV004144442 | benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | RAD51D: BS1, BS2 |
ARUP Laboratories, |
RCV000204059 | SCV004563235 | benign | Breast-ovarian cancer, familial, susceptibility to, 4 | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001358081 | SCV001553729 | likely benign | Malignant tumor of breast | no assertion criteria provided | clinical testing | The RAD51D c.481-7G>A variant was identified in 2 of 6082 proband chromosomes (frequency: 0.0003) from individuals or families with breast cancer or Lynch syndrome (Tung 2015, Yurgelun 2015). The variant was also identified in dbSNP (ID: rs145832514 as "With other allele") and ClinVar (3x as benign by GeneDx, Invitae, and Integrated Genetics/Laboratory Corporation of America and 4x as likely benign by Counsyl, Color Genomics, EGL Genetic Diagnostics, and Quest Diagnostics Nichols Institute). The variant was not identified in Cosmic. The variant was identified in control databases in 134 of 268084 chromosomes at a frequency of 0.0005, 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 124 of 22892 chromosomes (freq: 0.005), Other in 1 of 6294 chromosomes (freq: 0.0002), Latino in 6 of 33736 chromosomes (freq: 0.0002), European in 1 of 121706 chromosomes (freq: 0.000008), East Asian in 1 of 18750 chromosomes (freq: 0.00005), and South Asian in 1 of 29640 chromosomes (freq: 0.00003), while the variant was not observed in the Ashkenazi Jewish or Finnish populations. The c.481-7G>A 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. However, 5 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing; however, this information is not predictive enough to rule out pathogenicity. 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. |