ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.932T>A (p.Ile311Asn) (rs145309168)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000656967 SCV000149731 uncertain significance not provided 2018-08-02 criteria provided, single submitter clinical testing This variant is denoted RAD51D c.932T>A at the cDNA level, p.Ile311Asn (I311N) at the protein level, and results in the change of an Isoleucine to an Asparagine (ATT>AAT). This variant was observed in multiple Chinese individuals with breast cancer and in at least one individual with peritoneal cancer (Wickramanyake 2012, Lin 2016, Wong 2016). RAD51D Ile311Asn was observed at an allele frequency of 0.4% (83/18,868) in individuals of East Asian ancestry in large population cohorts (Lek 2016). This variant is located in the RAD51C binding domain (Miller 2004). In-silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether RAD51D Ile311Asn is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000115822 SCV000185850 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000656967 SCV000287734 likely benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Counsyl RCV000233793 SCV000488794 uncertain significance Breast-ovarian cancer, familial 4 2016-10-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000656967 SCV000602171 likely benign not provided 2019-03-20 criteria provided, single submitter clinical testing
Color RCV000115822 SCV000686502 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-07 criteria provided, single submitter clinical testing
GeneKor MSA RCV000115822 SCV000822186 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Mendelics RCV000709427 SCV000839169 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing

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