Table 4.

Notable MUC1 Pathogenic Variants

Reference
Sequences		DNA Nucleotide ChangePredicted
Protein Change		Comment [Reference]
NM_002456​.5
NP_002447​.4 		c.253C>Tp.Gln85TerPresence of an adenine in the 7-cytosine sequence w/in a VNTR results in encoding of MUC1fs protein.1 Exact position of this VNTR w/in the VNTR domain is unknown & may vary between families [Živná et al 2018].
NC_000001​.10 g.(155160963_155162030)insC 2Frameshift resulting in early terminationInsertion of a cytosine w/in 7-cytosine sequence in a VNTR is most common variant encoding MUC1fs protein. Exact position of this VNTR in VNTR domain is unknown & may vary between families [Kirby et al 2013].
g. 155161911_155161912delAGFrameshift resulting in early terminationOccurs before VNTR domain but nonetheless encodes MUC1fs protein [Yamamoto et al 2017]
g.(155160963_155162030)insG 2Frameshift resulting in early terminationVariant (not detected by clinically available MUC1 genetic testing) encodes MUC1fs protein [Živná a et al 2018].
g.(155160963_155162030)delinsAT 2Frameshift resulting in early terminationVariant (not detected by clinically available MUC1 genetic testing) encodes the MUC1fs protein [Živná et al 2018].
g.(155160963_155162030)dupGCCGGCCCCGGGTCC 2Frameshift resulting in early terminationVariant (not detected by clinically available MUC1 genetic testing) encodes MUC1fs protein [Živná et al 2018].

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

VNTR = variable-number tandem repeat

1.

Figure 2 illustrates a hypothetic example.

2.

Variant designation that does not conform to current naming conventions

From: Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.