ClinVar Miner

Submissions for variant NC_000011.10:g.1219991G>T

dbSNP: rs35705950
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Total submissions: 5
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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 RCV000151031 SCV000198767 risk factor Interstitial lung disease 2 2020-03-04 criteria provided, single submitter clinical testing MUC5B c.-3133G>T has been associated with increased risk for idiopathic pulmonary fibrosis. This variant has been observed in multiple ethnic backgrounds with highest frequencies in individuals of Ashkenazi Jewish ancestry (16.2%, Genome Aggregation Database (gnomAD); rs35705950) and is present in ClinVar (ID: 30126). Several studies have reported an odds ratios between 3.7-8.3 for developing pulmonary fibrosis in heterozygous individuals (OR=6.3 [95% CI 4.6-8.7] Borie 2013, OR=6.3 [95% CI 3.1-12.7] Hunninghake 2013, OR=8.3 [95% CI 5.8-11.9] Seibold 2013, OR=4.9 [95% CI 3.42-7.03] Stock 2013, OR=5.72 [95% CI 4.7-7.1] Lee 2015, OR=6.2 [95% CI 5.14-7.48] Zhu 2015) and odds ratios between 11.3-21.7 for developing pulmonary fibrosis in homozygous individuals (OR=21.7 [95% CI 104-45.3] Borie 2013, OR=12.98 [95% CI 7.97-21.12] Lee 2015, OR=11.29 [95% CI 5.69-22.40] Zhu 2015). MUC5B c.-3133G>T is a promoter variant that results in increased MUC5B expression (Seibold 2011, Nakano 2016, Kaur 2017). In summary, this variant is an established risk factor for idiopathic pulmonary fibrosis.
CeGaT Center for Human Genetics Tuebingen RCV002292458 SCV002585262 benign not provided 2022-08-01 criteria provided, single submitter clinical testing MUC5B: BS1, BS2
OMIM RCV000023036 SCV000044327 risk factor Pulmonary fibrosis, idiopathic, susceptibility to 2013-06-06 no assertion criteria provided literature only
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV002466249 SCV002546355 uncertain significance Susceptibility to coronavirus disease (COVID-19) severity and mortality due to low plasma levels of MUC5B 2022-05-13 no assertion criteria provided research Differences in plasma levels of MUC5B according to genotypes
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV004794344 SCV005045620 association Antisynthetase syndrome 2024-05-15 no assertion criteria provided research Usual Interstitial Pneumonia was observed in the patients

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