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NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) AND Myelodysplastic syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 31, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000424642.2

Allele description [Variation Report for NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly)]

NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly)

Gene:
SF3B2:splicing factor 3b subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly)
HGVS:
  • NC_000011.10:g.66063413A>G
  • NM_006842.3:c.2099A>GMANE SELECT
  • NP_006833.2:p.Glu700Gly
  • NC_000011.9:g.65830884A>G
Protein change:
E700G
Links:
dbSNP: rs1057519960
NCBI 1000 Genomes Browser:
rs1057519960
Molecular consequence:
  • NM_006842.3:c.2099A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myelodysplastic syndrome (MDS)
Synonyms:
MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO; Myelodysplastic syndrome, somatic; Myelodysplastic syndromes
Identifiers:
MONDO: MONDO:0018881; MeSH: D009190; MedGen: C3463824; Orphanet: 52688; OMIM: 614286

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000507359Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(May 31, 2016) 		somaticliterature only

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

Citation Link

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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), SCV000507359.1

#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: Sep 16, 2024