ClinVar Miner

Submissions for variant NM_001270508.2(TNFAIP3):c.1634C>T (p.Ala545Val)

gnomAD frequency: 0.00067  dbSNP: rs142752989
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001394441 SCV001596125 likely benign not provided 2023-12-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001802898 SCV002048468 uncertain significance Autoinflammatory syndrome, familial, Behcet-like 2021-04-17 criteria provided, single submitter clinical testing The TNFAIP3 c.1634C>T; p.Ala545Val variant (rs142752989) is reported in the literature in a healthy individual from a large sequencing cohort (Bodian 2014), but has not been reported in association with disease. This variant is reported in ClinVar (Variation ID: 135338), and is found in the general population with an overall allele frequency of 0.044% (125/282850 alleles) in the Genome Aggregation Database. The alanine at codon 545 is moderately conserved and computational analyses predict that this variant is neutral (REVEL: 0.083).Due to limited information, the clinical significance of the p.Ala545Val variant is uncertain at this time. References: Bodian DL et al. Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. PLoS One. 2014 Apr 11;9(4):e94554.
PreventionGenetics, part of Exact Sciences RCV003407525 SCV004110894 uncertain significance TNFAIP3-related condition 2023-06-04 criteria provided, single submitter clinical testing The TNFAIP3 c.1634C>T variant is predicted to result in the amino acid substitution p.Ala545Val. To our knowledge, this variant has not been reported in the literature in association with TNFAIP3-related disease. This variant is reported in 0.087% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-138200216-C-T), which may be too common to be causative of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV001394441 SCV004160372 benign not provided 2022-05-01 criteria provided, single submitter clinical testing TNFAIP3: BS1, BS2
ITMI RCV000122153 SCV000086368 not provided not specified 2013-09-19 no assertion provided reference population

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