ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1809C>A (p.Phe603Leu) (rs192236678)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164543 SCV000215199 likely benign Hereditary cancer-predisposing syndrome 2017-08-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Invitae RCV000168426 SCV000219123 benign Microcephaly, normal intelligence and immunodeficiency 2018-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000424535 SCV000513863 likely benign not specified 2018-03-12 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000424535 SCV000601678 likely benign not specified 2017-04-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589243 SCV000697955 benign not provided 2017-06-05 criteria provided, single submitter clinical testing Variant summary: The NBN c.1809C>A (p.Phe603Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. 5/5 in silico tools predict a benign outcome for this variant. This variant was found in 40/128334 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.004161 (36/8652). This frequency is about 33 times the estimated maximal expected allele frequency of a pathogenic NBN variant (0.000125), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. his variant was reported in two studies in non-BRCA1/2 Korean patients with high-risk breast cancer and European populations with high risk of ovarian cancer, but was also observed in controls (Kim_FC_2015, Ramus_NBN1_JNCI_2015). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000424535 SCV000707503 likely benign not specified 2017-04-17 criteria provided, single submitter clinical testing
Color RCV000164543 SCV000902625 benign Hereditary cancer-predisposing syndrome 2015-10-29 criteria provided, single submitter clinical testing

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