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NM_005373.2(MPL):c.1120A>G (p.Thr374Ala)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jul 10, 2018)
Last evaluated:
Sep 19, 2017
Accession:
VCV000134838.1
Variation ID:
134838
Description:
single nucleotide variant
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NM_005373.2(MPL):c.1120A>G (p.Thr374Ala)

Allele ID
138577
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.2
Genomic location
1: 43346584 (GRCh38) GRCh38 UCSC
1: 43812255 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.43346584A>G
NC_000001.10:g.43812255A>G
NM_005373.2:c.1120A>G NP_005364.1:p.Thr374Ala missense
... more HGVS
Protein change
T374A
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00559 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00306
The Genome Aggregation Database (gnomAD) 0.00149
The Genome Aggregation Database (gnomAD), exomes 0.00285
Trans-Omics for Precision Medicine (TOPMed) 0.00178
1000 Genomes Project 0.00559
Links
dbSNP: rs190983971
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Mar 16, 2017 RCV000273701.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000369869.1
Benign 1 criteria provided, single submitter Sep 19, 2017 RCV000472784.2
not provided 1 no assertion provided Sep 19, 2013 RCV000121553.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MPL - - GRCh38
GRCh37
113 123

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Sep 19, 2017)
criteria provided, single submitter
Method: clinical testing
essential thrombocytemia
Congenital amegakaryocytic thrombocytopenia
Allele origin: germline
Invitae
Accession: SCV000563311.3
Submitted: (Apr 02, 2018)
Evidence details
Benign
(Mar 16, 2017)
criteria provided, single submitter
Method: clinical testing
Congenital amegakaryocytic thrombocytopenia
Allele origin: unknown
Counsyl
Accession: SCV000790158.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Essential Thrombocythemia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000357774.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Congenital Amegakaryocytic Thrombocytopenia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000357775.2
Submitted: (Oct 18, 2016)
Evidence details
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Allele origin: germline
ITMI
Accession: SCV000085747.1
Submitted: (May 29, 2014)
Comment:
Please see associated publication for description of ethnicities
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL PloS one 2014 PMID: 24728327

Record last updated Jun 20, 2019