NM_005373.3(MPL):c.304C>T (p.Arg102Cys) AND Congenital amegakaryocytic thrombocytopenia

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Sep 16, 2020
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:: RCV001272212.3

Allele description [Variation Report for NM_005373.3(MPL):c.304C>T (p.Arg102Cys)]

NM_005373.3(MPL):c.304C>T (p.Arg102Cys)

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.304C>T (p.Arg102Cys)

HGVS:

NC_000001.11:g.43338633C>T
NG_007525.1:g.5830C>T
NM_005373.3:c.304C>TMANE SELECT
NP_005364.1:p.Arg102Cys
NP_005364.1:p.Arg102Cys
LRG_510t1:c.304C>T
LRG_510:g.5830C>T
LRG_510p1:p.Arg102Cys
NC_000001.10:g.43804304C>T
NM_005373.2:c.304C>T

Protein change:

R102C

Links:

dbSNP: rs763568293

NCBI 1000 Genomes Browser:

rs763568293

Molecular consequence:

NM_005373.3:c.304C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001453971	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing
SCV002515666	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	no assertion criteria provided	Likely pathogenic	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001453971

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 16, 2020)

germline

clinical testing

SCV002515666

ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

no assertion criteria provided

Likely pathogenic

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV001453971.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002515666.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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