NM_005373.2(MPL):c.962G>A (p.Arg321Gln) AND Congenital amegakaryocytic thrombocytopenia

Clinical significance:Likely benign (Last evaluated: Mar 6, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000284667.2

Allele description [Variation Report for NM_005373.2(MPL):c.962G>A (p.Arg321Gln)]

NM_005373.2(MPL):c.962G>A (p.Arg321Gln)

Gene:
MPL:MPL proto-oncogene, thrombopoietin receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_005373.2(MPL):c.962G>A (p.Arg321Gln)
HGVS:
  • NC_000001.11:g.43340495G>A
  • NG_007525.1:g.7692G>A
  • NM_005373.2:c.962G>A
  • NP_005364.1:p.Arg321Gln
  • LRG_510t1:c.962G>A
  • LRG_510:g.7692G>A
  • LRG_510p1:p.Arg321Gln
  • NC_000001.10:g.43806166G>A
Protein change:
R321Q
Links:
dbSNP: rs149265851
NCBI 1000 Genomes Browser:
rs149265851
Molecular consequence:
  • NM_005373.2:c.962G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital amegakaryocytic thrombocytopenia (CAMT)
Identifiers:
MONDO: MONDO:0011469; MedGen: C1327915; Orphanet: 3319; OMIM: 604498

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000357767Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000790139Counsylcriteria provided, single submitter
Likely benign
(Mar 6, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]
PMID:
24728327
PMCID:
PMC3984285

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000357767.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Counsyl, SCV000790139.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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