U.S. flag

An official website of the United States government

NM_000301.5(PLG):c.2045T>A (p.Ile682Asn) AND Deep venous thrombosis

Germline classification:
Uncertain significance (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002222053.2

Allele description [Variation Report for NM_000301.5(PLG):c.2045T>A (p.Ile682Asn)]

NM_000301.5(PLG):c.2045T>A (p.Ile682Asn)

Gene:
PLG:plasminogen [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q26
Genomic location:
Preferred name:
NM_000301.5(PLG):c.2045T>A (p.Ile682Asn)
HGVS:
  • NC_000006.12:g.160741337T>A
  • NG_016200.1:g.44145T>A
  • NM_000301.5:c.2045T>AMANE SELECT
  • NP_000292.1:p.Ile682Asn
  • NP_000292.1:p.Ile682Asn
  • LRG_571t1:c.2045T>A
  • LRG_571:g.44145T>A
  • LRG_571p1:p.Ile682Asn
  • NC_000006.11:g.161162369T>A
  • NC_000006.11:g.161162369T>A
  • NM_000301.3:c.2045T>A
  • p.Ile682Asn
Protein change:
I682N
Links:
dbSNP: rs147175166
NCBI 1000 Genomes Browser:
rs147175166
Molecular consequence:
  • NM_000301.5:c.2045T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deep venous thrombosis
Synonyms:
Deep vein thrombosis
Identifiers:
MeSH: D020246; MedGen: C0149871; Human Phenotype Ontology: HP:0002625

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002499602ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significanceunknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K, Downes K, Morel-Kopp MC, Bastida JM, Brooks S, Bury L, Leinoe E, Gomez K, Morgan NV, Othman M, Ouwehand WH, Perez Botero J, Rivera J, Schulze H, Trégouët DA, Freson K.

J Thromb Haemost. 2021 Oct;19(10):2612-2617. doi: 10.1111/jth.15459. Epub 2021 Aug 5. Erratum in: J Thromb Haemost. 2023 Apr;21(4):1067. doi: 10.1016/j.jtha.2023.01.021.

PubMed [citation]
PMID:
34355501
PMCID:
PMC9291976

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002499602.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024