ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.145-13G>T

gnomAD frequency: 0.00004  dbSNP: rs760867838
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001358007 SCV000518732 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580748 SCV000686420 likely benign Hereditary cancer-predisposing syndrome 2016-10-27 criteria provided, single submitter clinical testing
Counsyl RCV000662588 SCV000785215 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2017-06-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798802 SCV002043211 likely benign Breast and/or ovarian cancer 2021-05-06 criteria provided, single submitter clinical testing
Invitae RCV000662588 SCV002492043 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2024-01-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000580748 SCV002534772 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-07 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000662588 SCV004017715 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358007 SCV001553633 uncertain significance not provided no assertion criteria provided clinical testing The RAD51D c.145-13G>T variant was not identified in the literature nor was it identified in Cosmic database. The variant was identified in dbSNP (ID: rs760867838) as “With Likely benign allele”, and in ClinVar (classified as likely benign by GeneDx and Color Genomics). The variant was identified in control databases in 8 of 276832 chromosomes at a frequency of 0.00003 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Other in 1 of 6462 chromosomes (freq: 0.0002), and European in 7 of 126576 chromosomes (freq: 0.0001); it was not observed in the African, Latino, Ashkenazi Jewish, East Asian, Finnish, and South Asian populations. The variant occurs outside of the splicing consensus sequence and 2 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing. However, this information is not predictive enough to assume pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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