ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.73+16G>A

gnomAD frequency: 0.00112  dbSNP: rs571968917
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001512570 SCV001720015 benign Immunodeficiency 28 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717783 SCV005307732 benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005237865 SCV005884127 benign not specified 2024-12-11 criteria provided, single submitter clinical testing Variant summary: IFNGR2 c.73+16G>A alters a nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing (TrAP). However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0089 in 12114 control chromosomes. The observed variant frequency exceeds the estimated maximal expected allele frequency for a pathogenic variant in IFNGR2 causing Interferon Gamma Receptor Deficiency phenotype. To our knowledge, no occurrence of c.73+16G>A in individuals affected with Interferon Gamma Receptor Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1165446). Based on the evidence outlined above, the variant was classified as benign.

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