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NM_005373.3(MPL):c.972del (p.Arg325fs) AND Congenital amegakaryocytic thrombocytopenia

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jul 22, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000502932.9

Allele description [Variation Report for NM_005373.3(MPL):c.972del (p.Arg325fs)]

NM_005373.3(MPL):c.972del (p.Arg325fs)

Gene:
MPL:MPL proto-oncogene, thrombopoietin receptor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_005373.3(MPL):c.972del (p.Arg325fs)
HGVS:
  • NC_000001.11:g.43340505del
  • NG_007525.1:g.7702del
  • NM_005373.3:c.972delMANE SELECT
  • NP_005364.1:p.Arg325fs
  • NP_005364.1:p.Arg325fs
  • LRG_510t1:c.972del
  • LRG_510:g.7702del
  • LRG_510p1:p.Arg325fs
  • NC_000001.10:g.43806173del
  • NC_000001.10:g.43806176del
  • NM_005373.2:c.972del
Protein change:
R325fs
Links:
dbSNP: rs770457041
NCBI 1000 Genomes Browser:
rs770457041
Molecular consequence:
  • NM_005373.3:c.972del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Congenital amegakaryocytic thrombocytopenia
Identifiers:
MONDO: MONDO:0800451; MedGen: C1327915; Orphanet: 3319; OMIM: PS604498

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000595821Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 8, 2015) 		germlineclinical testing

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

SCV001810505Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 22, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000595821.1

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

From Genome-Nilou Lab, SCV001810505.1

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

Last Updated: Sep 29, 2024