ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.939G>A (p.Ala313=) (rs145750430)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000679469 SCV000166527 likely benign not provided 2019-02-25 criteria provided, single submitter clinical testing
GeneDx RCV000212728 SCV000170637 benign not specified 2014-04-29 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.
Ambry Genetics RCV000127084 SCV000213949 likely benign Hereditary cancer-predisposing syndrome 2014-12-02 criteria provided, single submitter clinical testing
Color RCV000127084 SCV000685839 likely benign Hereditary cancer-predisposing syndrome 2015-07-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679469 SCV000806454 likely benign not provided 2018-01-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000212728 SCV000919844 likely benign not specified 2017-11-20 criteria provided, single submitter clinical testing Variant summary: The NBN c.939G>A (p.Ala313Ala) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 3/5 splice prediction tools predict a potential effect on a cryptic splicing donor site. ESE finder predicts that this variant may alter ESE binding affinity. However, these predictions have yet to be confirmed by functional studies. This variant was found in 39/276942 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.000999 (24/24028). This frequency is about 8 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 African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as a likely benign."

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