ClinVar Miner

Submissions for variant NM_002458.3(MUC5B):c.1440G>A (p.Ala480=)

gnomAD frequency: 0.00282  dbSNP: rs116030616
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Total submissions: 2
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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 RCV000221454 SCV000269246 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala480Ala in exon 12 of MUC5B: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.9% (39/4272) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs116030616).
Breakthrough Genomics, Breakthrough Genomics RCV004718103 SCV005319693 benign not provided criteria provided, single submitter not provided

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