ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(155160963_155162030)insC
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
MUC1 | - | - |
GRCh38 GRCh37 |
69 | 86 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2013 | RCV000049251.26 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023
NCBI staff reviewed the sequence information reported in PubMed 23396133 to determine the location of this allele on current reference sequence. The variant is a 'C' insertion in a variable-number tandem repeat (VNTR) sequence in gene MUC1, but in a different repeat sequence in each of six families examined. The VNTR region comprises 60-mer repeat units that span NC_0000001.10:155160963_155162030.