ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala)

gnomAD frequency: 0.39951  dbSNP: rs231775
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455037 SCV000538749 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
Invitae RCV001517779 SCV001726347 benign Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001723578 SCV001950680 benign not provided 2018-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19737153, 19037649, 22497911, 20920330, 21387262, 18757416, 23830732, 21503616, 21612409, 22011251, 19884265, 20145677, 11426323, 21453059, 22905924, 20538028, 23246583, 19922464, 11976786, 12417883, 22699762, 21346773, 21629267, 20940051, 9259273, 24517008, 28220572)
OMIM RCV000018423 SCV000038705 risk factor Hashimoto thyroiditis, susceptibility to 2005-04-01 no assertion criteria provided literature only
OMIM RCV000018424 SCV000038706 risk factor Thyroid-associated orbitopathy, susceptibility to 2005-04-01 no assertion criteria provided literature only
OMIM RCV000018425 SCV000038707 risk factor Systemic lupus erythematosus, susceptibility to 2005-04-01 no assertion criteria provided literature only
OMIM RCV000018427 SCV000038709 risk factor Celiac disease, susceptibility to, 3 2005-04-01 no assertion criteria provided literature only
OMIM RCV001255201 SCV001431556 risk factor TYPE 1 DIABETES MELLITUS 12, SUSCEPTIBILITY TO 2005-04-01 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV001723578 SCV002074600 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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