Skip to main page content
Accesskeys

ClinVar Genomic variation as it relates to human health

Advanced search

NM_005373.2(MPL):c.690A>G (p.Glu230=)

Help
Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Oct 5, 2017)
Last evaluated:
Jul 28, 2017
Accession:
VCV000134827.1
Variation ID:
134827
Description:
single nucleotide variant
Help

NM_005373.2(MPL):c.690A>G (p.Glu230=)

Allele ID
138566
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.2
Genomic location
1: 43339569 (GRCh38) GRCh38 UCSC
1: 43805240 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_510:g.6766A>G
NC_000001.11:g.43339569A>G
NC_000001.10:g.43805240A>G
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.05911 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.03465
Exome Aggregation Consortium (ExAC) 0.03747
The Genome Aggregation Database (gnomAD) 0.04750
Trans-Omics for Precision Medicine (TOPMed) 0.05033
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.05436
1000 Genomes Project 0.05911
Links
dbSNP: rs16830693
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter - RCV000121542.2
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000292036.1
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000386380.1
Benign 1 criteria provided, single submitter Jul 28, 2017 RCV000472894.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000311031.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Essential Thrombocythemia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000357760.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Congenital Amegakaryocytic Thrombocytopenia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000357761.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jul 28, 2017)
criteria provided, single submitter
Method: clinical testing
essential thrombocytemia
Congenital amegakaryocytic thrombocytopenia
Allele origin: germline
Invitae
Accession: SCV000563308.2
Submitted: (Oct 05, 2017)
Evidence details
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Allele origin: germline
ITMI
Accession: SCV000085736.1
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 Mar 29, 2019