NM_003400.4(XPO1):c.1712A>T (p.Glu571Val) AND Chronic lymphocytic leukemia

Clinical significance:Likely pathogenic (Last evaluated: May 31, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000433729.1

Allele description [Variation Report for NM_003400.4(XPO1):c.1712A>T (p.Glu571Val)]

NM_003400.4(XPO1):c.1712A>T (p.Glu571Val)

Gene:
XPO1:exportin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p15
Genomic location:
Preferred name:
NM_003400.4(XPO1):c.1712A>T (p.Glu571Val)
HGVS:
  • NC_000002.12:g.61492336T>A
  • NM_003400.4:c.1712A>T
  • NP_003391.1:p.Glu571Val
  • NC_000002.11:g.61719471T>A
Protein change:
E571V
Links:
dbSNP: rs1057520010
NCBI 1000 Genomes Browser:
rs1057520010
Molecular consequence:
  • NM_003400.4:c.1712A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Chronic lymphocytic leukemia (CLL)
Synonyms:
Chronic lymphatic leukemia; B-cell chronic lymphocytic leukemia
Identifiers:
MeSH: D015451; MedGen: C0023434; Orphanet: 67038; OMIM: 151400; Human Phenotype Ontology: HP:0005550

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000510394Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(May 31, 2016)
somaticliterature only

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

Chang MT, Asthana S, Gao SP, Lee BH, Chapman JS, Kandoth C, Gao J, Socci ND, Solit DB, Olshen AB, Schultz N, Taylor BS.

Nat Biotechnol. 2016 Feb;34(2):155-63. doi: 10.1038/nbt.3391. Epub 2015 Nov 30.

PubMed [citation]
PMID:
26619011
PMCID:
PMC4744099

Details of each submission

From Database of Curated Mutations (DoCM), SCV000510394.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 17, 2019

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