NM_005373.2(MPL):c.543T>C (p.Gly181=) AND Congenital amegakaryocytic thrombocytopenia

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000275711.3

Allele description [Variation Report for NM_005373.2(MPL):c.543T>C (p.Gly181=)]

NM_005373.2(MPL):c.543T>C (p.Gly181=)

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.543T>C (p.Gly181=)
HGVS:
  • NC_000001.11:g.43339422T>C
  • NG_007525.1:g.6619T>C
  • NM_005373.2:c.543T>C
  • NP_005364.1:p.Gly181=
  • LRG_510t1:c.543T>C
  • LRG_510:g.6619T>C
  • LRG_510p1:p.Gly181=
  • NC_000001.10:g.43805093T>C
Links:
dbSNP: rs17572791
NCBI 1000 Genomes Browser:
rs17572791
Molecular consequence:
  • NM_005373.2:c.543T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000357758Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV001453975Natera, Inc.no assertion criteria providedBenign
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000357758.2

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

From Natera, Inc., SCV001453975.1

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

Last Updated: Sep 29, 2021

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