NM_012433.4(SF3B1):c.2098A>T (p.Lys700Ter) AND Acute myeloid leukemia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 2, 2014
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:: RCV000424424.1

Allele description [Variation Report for NM_012433.4(SF3B1):c.2098A>T (p.Lys700Ter)]

NM_012433.4(SF3B1):c.2098A>T (p.Lys700Ter)

Gene:

SF3B1:splicing factor 3b subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.1

Genomic location:

Preferred name:

NM_012433.4(SF3B1):c.2098A>T (p.Lys700Ter)

HGVS:

NC_000002.12:g.197402110T>A
NG_032903.2:g.37938A>T
NM_012433.4:c.2098A>TMANE SELECT
NP_036565.2:p.Lys700Ter
LRG_624:g.37938A>T
NC_000002.11:g.198266834T>A

Protein change:

K700*

Links:

dbSNP: rs559063155

NCBI 1000 Genomes Browser:

rs559063155

Molecular consequence:

NM_012433.4:c.2098A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Acute myeloid leukemia (AML)
Synonyms:: Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000504903	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (Oct 2, 2014)	somatic	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000504903

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(Oct 2, 2014)

somatic

literature only

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

SF3B1 mutation is a rare event in Chinese patients with acute and chronic myeloid leukemia.

Yang J, Qian J, Yao DM, Qian SX, Qian W, Lin J, Xiao GF, Wang CZ, Deng ZQ, Ma JC, Chen XX.

Clin Biochem. 2013 May;46(7-8):701-3. doi: 10.1016/j.clinbiochem.2013.01.023. Epub 2013 Feb 5.

PubMed [citation]

PMID:: 23395771

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504903.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 13, 2023

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