ClinVar Genomic variation as it relates to human health
NM_001080449.3(DNA2):c.3114+6del
Germline
Classification
(2)
Pathogenic/Likely 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 | |||
DNA2 | - | - |
GRCh38 GRCh37 |
767 | 798 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 1, 2014 | RCV000133461.7 | |
Likely pathogenic (1) |
|
- | RCV000162161.5 |
Citations for germline classification of this variant
HelpText-mined citations for rs587777614 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Aug 04, 2024
NCBI staff reviewed the sequence information reported in PubMed 24389050 to determine the location of this allele on the current reference sequence. In Table 1 this is called NM_001080449.2:c.3372+6delC; in Fig. 3 it is called NM_001080449.2:c.3114+6delC, which corresponds to the given DNA sequence chromatogram.