ClinVar Genomic variation as it relates to human health
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs)
Germline
Classification
(3)
Pathogenic
criteria provided, single submitter
Somatic
Clinical impact
(3)
no assertion criteria provided
Somatic
Oncogenicity
(1)
Uncertain significance
no assertion criteria provided
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
CALR | - | - |
GRCh38 GRCh37 |
21 | 72 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 19, 2013 | RCV000083256.5 | |
Pathogenic (1) |
|
Dec 19, 2013 | RCV000083257.5 | |
Pathogenic (1) |
|
Feb 10, 2022 | RCV002498437.1 |
Citations for germline classification of this variant
HelpConditions - Somatic
Tumor type | Clinical impact (# of submissions) | Oncogenicity | Last evaluated | Variation/condition record |
---|---|---|---|---|
Tier I (Strong)
- diagnostic
- supports diagnosis
(1)
Tier I (Strong)
- prognostic
- better outcome
(1)
|
Jan 24, 2024 | RCV003883131.2 | ||
Tier III Unknown
(1)
|
Uncertain significance
|
Jan 24, 2024 | RCV003883130.1 |
Citations for somatic classification of this variant
HelpText-mined citations for rs1555760738 ...
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 Jun 23, 2024
52-nt deletion from exon 9 of CALR.