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NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) AND Primary myelofibrosis

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 2, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000425381.2

Allele description [Variation Report for NM_005373.3(MPL):c.1514G>A (p.Ser505Asn)]

NM_005373.3(MPL):c.1514G>A (p.Ser505Asn)

Gene:
MPL:MPL proto-oncogene, thrombopoietin receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn)
HGVS:
  • NC_000001.11:g.43349308G>A
  • NG_007525.1:g.16505G>A
  • NM_005373.3:c.1514G>AMANE SELECT
  • NP_005364.1:p.Ser505Asn
  • LRG_510:g.16505G>A
  • NC_000001.10:g.43814979G>A
  • P40238:p.Ser505Asn
Protein change:
S505N; SER505ASN
Links:
UniProtKB: P40238#VAR_067559; OMIM: 159530.0010; dbSNP: rs121913614
NCBI 1000 Genomes Browser:
rs121913614
Molecular consequence:
  • NM_005373.3:c.1514G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary myelofibrosis
Synonyms:
Myelofibrosis, somatic; Suspected idiopathic myelofibrosis
Identifiers:
MONDO: MONDO:0009692; MeSH: D055728; MedGen: C0001815; Orphanet: 824; OMIM: 254450

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000504800Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(Oct 2, 2014) 		somaticliterature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis.

Boyd EM, Bench AJ, Goday-Fernández A, Anand S, Vaghela KJ, Beer P, Scott MA, Bareford D, Green AR, Huntly B, Erber WN.

Br J Haematol. 2010 Apr;149(2):250-7. doi: 10.1111/j.1365-2141.2010.08083.x. Epub 2010 Feb 11.

PubMed [citation]
PMID:
20151976

New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition.

Chaligné R, Tonetti C, Besancenot R, Roy L, Marty C, Mossuz P, Kiladjian JJ, Socié G, Bordessoule D, Le Bousse-Kerdilès MC, Vainchenker W, Giraudier S.

Leukemia. 2008 Aug;22(8):1557-66. doi: 10.1038/leu.2008.137. Epub 2008 Jun 5.

PubMed [citation]
PMID:
18528423

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504800.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024