ClinVar Miner

Submissions for variant NM_012452.2(TNFRSF13B):c.61+10C>T (rs148297590)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000384290 SCV000400924 likely benign Common Variable Immune Deficiency, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000648145 SCV000769959 benign Common variable immunodeficiency 2 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781908 SCV000920306 benign not specified 2017-09-14 criteria provided, single submitter clinical testing Variant summary: The TNFRSF13B c.61+10C>T variant causes a missense change involving the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was found in the control population dataset of ExAC in 253/121068 control chromosomes (4 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.019068 (198/10384). This frequency is about 6674 times the estimated maximal expected allele frequency of a pathogenic TNFRSF13B variant (0.0000029), suggesting this is a benign polymorphism found primarily in the populations of African origin. In addition, one clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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