ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2851-3del

dbSNP: rs876660379
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213998 SCV000277763 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-12 criteria provided, single submitter clinical testing The c.2851-3delT intronic variant, located in intron 21 of the NF1 gene, results from a deletion of one nucleotide within intron 21 of the NF1 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than55000 alleles tested) in our clinical cohort.This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable.Since supporting evidence for this variant is limited at this time, the clinical significance ofc.2851-3delTremains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001448764 SCV001651864 likely benign Neurofibromatosis, type 1 2024-09-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433940 SCV002749875 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-03-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Baylor Genetics RCV003469075 SCV004198985 uncertain significance Juvenile myelomonocytic leukemia 2022-04-11 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.