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NM_005157.6(ABL1):c.949T>A (p.Phe317Ile) AND Chronic myelogenous leukemia, BCR-ABL1 positive

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 26, 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:
RCV000421381.1

Allele description [Variation Report for NM_005157.6(ABL1):c.949T>A (p.Phe317Ile)]

NM_005157.6(ABL1):c.949T>A (p.Phe317Ile)

Gene:
ABL1:ABL proto-oncogene 1, non-receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.12
Genomic location:
Preferred name:
NM_005157.6(ABL1):c.949T>A (p.Phe317Ile)
HGVS:
  • NC_000009.12:g.130872901T>A
  • NG_012034.1:g.164021T>A
  • NM_005157.6:c.949T>AMANE SELECT
  • NM_007313.3:c.1006T>A
  • NP_005148.2:p.Phe317Ile
  • NP_009297.2:p.Phe336Ile
  • LRG_769t1:c.949T>A
  • LRG_769t2:c.1006T>A
  • LRG_769:g.164021T>A
  • LRG_769p1:p.Phe317Ile
  • LRG_769p2:p.Phe336Ile
  • NC_000009.11:g.133748288T>A
Protein change:
F317I
Links:
dbSNP: rs1057519773
NCBI 1000 Genomes Browser:
rs1057519773
Molecular consequence:
  • NM_005157.6:c.949T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007313.3:c.1006T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Chronic myelogenous leukemia, BCR-ABL1 positive (CML)
Synonyms:
Chronic myeloid leukemia; Chronic granulocytic leukemia; Chronic myelogenous leukemia
Identifiers:
MONDO: MONDO:0011996; MeSH: D015464; MedGen: C0279543; Orphanet: 521; OMIM: 608232; Human Phenotype Ontology: HP:0005506

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000505120Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(Dec 26, 2014) 		somaticliterature only

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

BCR-ABL kinase domain mutation analysis in chronic myeloid leukemia patients treated with tyrosine kinase inhibitors: recommendations from an expert panel on behalf of European LeukemiaNet.

Soverini S, Hochhaus A, Nicolini FE, Gruber F, Lange T, Saglio G, Pane F, Müller MC, Ernst T, Rosti G, Porkka K, Baccarani M, Cross NC, Martinelli G.

Blood. 2011 Aug 4;118(5):1208-15. doi: 10.1182/blood-2010-12-326405. Epub 2011 May 11. Review.

PubMed [citation]
PMID:
21562040

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505120.1

#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: Dec 2, 2023