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NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) AND Acute myeloid leukemia

Germline classification:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
Tier III (1 submission)
Last evaluated:
Jan 24, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
Uncertain significance (1 submission)
Last evaluated:
Jan 24, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003883130.1

Allele description [Variation Report for NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs)]

NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs)

Gene:
CALR:calreticulin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs)
HGVS:
  • NC_000019.10:g.12943758_12943809del
  • NG_029662.1:g.10159_10210del
  • NM_004343.4:c.1099_1150delMANE SELECT
  • NP_004334.1:p.Leu367fs
  • LRG_828:g.10159_10210del
  • NC_000019.9:g.13054572_13054623del
  • NM_004343.3:c.1092_1143del52
Note:
52-nt deletion from exon 9 of CALR.
Protein change:
L367fs
Links:
dbVar: nssv3761626; dbVar: nsv1067850; OMIM: 109091.0001; dbSNP: rs1555760738
NCBI 1000 Genomes Browser:
rs1555760738
Molecular consequence:
  • NM_004343.4:c.1099_1150del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Acute myeloid leukemia (AML)
Synonyms:
Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004697529Molecular Diagnostics Laboratory, Fox Chase Cancer Center - Temple Health
no assertion criteria provided
Tier III - Unknown
(Jan 24, 2024) 		somaticclinical testing

SCV004697530Molecular Diagnostics Laboratory, Fox Chase Cancer Center - Temple Health
no assertion criteria provided
Uncertain significance
(Jan 24, 2024) 		somaticclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Mutant calreticulin in myeloproliferative neoplasms.

How J, Hobbs GS, Mullally A.

Blood. 2019 Dec 19;134(25):2242-2248. doi: 10.1182/blood.2019000622.

PubMed [citation]
PMID:
31562135
PMCID:
PMC6923668

Details of each submission

From Molecular Diagnostics Laboratory, Fox Chase Cancer Center - Temple Health, SCV004697529.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

While there are strong associations of this variant to thrombocythemia and myeloproliferative neoplasms, its oncogenicity and clinical impact in this case of acute myeloid leukemia is uncertain because the allele frequency decreased over time from 11% (progressive thrombocythemia) to 3% (AML in remission) to undetectable at AML relapse.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyes1bone marrow with 37% blastsnot providednot providednot providednot providednot provided

From Molecular Diagnostics Laboratory, Fox Chase Cancer Center - Temple Health, SCV004697530.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

While there are strong associations of this variant to thrombocythemia and myeloproliferative neoplasms, its oncogenicity and clinical impact in this case of acute myeloid leukemia is uncertain because the allele frequency decreased over time from 11% (progressive thrombocythemia) to 3% (AML in remission) to undetectable at AML relapse.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyes1bone marrow with 37% blastsnot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024