NM_005373.3(MPL):c.340G>A (p.Val114Met) AND Congenital amegakaryocytic thrombocytopenia

Germline classification:: Likely benign (4 submissions)
Last evaluated:: Mar 6, 2017
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:: RCV000371334.10

Allele description [Variation Report for NM_005373.3(MPL):c.340G>A (p.Val114Met)]

NM_005373.3(MPL):c.340G>A (p.Val114Met)

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.340G>A (p.Val114Met)

HGVS:

NC_000001.11:g.43338669G>A
NG_007525.1:g.5866G>A
NM_005373.3:c.340G>AMANE SELECT
NP_005364.1:p.Val114Met
NP_005364.1:p.Val114Met
LRG_510t1:c.340G>A
LRG_510:g.5866G>A
LRG_510p1:p.Val114Met
NC_000001.10:g.43804340G>A
NM_005373.2:c.340G>A
P40238:p.Val114Met

Protein change:

V114M

Links:

UniProtKB: P40238#VAR_049174; dbSNP: rs12731981

NCBI 1000 Genomes Browser:

rs12731981

Molecular consequence:

NM_005373.3:c.340G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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Homo sapiens beta-2-microglobulin (B2M), mRNA
Homo sapiens beta-2-microglobulin (B2M), mRNA
gi|37704380|ref|NM_004048.2|

Nucleotide
UI-H-BI1-afs-f-10-0-UI.s1 NCI_CGAP_Sub3 Homo sapiens cDNA clone IMAGE:2723082 3'...
UI-H-BI1-afs-f-10-0-UI.s1 NCI_CGAP_Sub3 Homo sapiens cDNA clone IMAGE:2723082 3', mRNA sequence
gi|6506449|gnl|dbEST|3552193|gb|AW2 .1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000357757	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV000790144	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely benign (Mar 6, 2017)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 11133753, 24728327, 11392330, 21228398 Citation Link,
SCV001453973	Natera, Inc.	no assertion criteria provided	Benign (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000357757

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

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

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000790144

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely benign
(Mar 6, 2017)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV001453973

Natera, Inc.

no assertion criteria provided

Benign
(Sep 16, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Citations

PubMed

Screening for c-mpl mutations in patients with congenital amegakaryocytic thrombocytopenia identifies a polymorphism.

van den Oudenrijn S, de Haas M, von dem Borne AE.

Blood. 2001 Jun 1;97(11):3675-6. No abstract available.

PubMed [citation]

PMID:: 11392330

Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF.

Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756.

PubMed [citation]

PMID:: 21228398
PMCID:: PMC3740116

See all PubMed Citations (5)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000357757.2

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

#	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 Counsyl, SCV000790144.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

From Natera, Inc., SCV001453973.1

#	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 Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology, SCV003843864.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003843864	Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology	flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (ACMG Guidelines, 2015)	Likely pathogenic	maternal	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24728327, 11133753, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003843864

Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology

flagged submission

Reason: Outlier claim with insufficient supporting evidence

Notes: None

(ACMG Guidelines, 2015)

Likely pathogenic

maternal

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Last Updated: Oct 8, 2024

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