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NM_000222.3(KIT):c.1621A>C (p.Met541Leu) AND Chronic myelogenous leukemia, BCR-ABL1 positive

Germline classification:
not provided (1 submission)
Last evaluated:
Mar 10, 2016
Review status:
no classification 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:
RCV000422326.1

Allele description

NM_000222.3(KIT):c.1621A>C (p.Met541Leu)

Gene:
KIT:KIT proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000222.3(KIT):c.1621A>C (p.Met541Leu)
HGVS:
  • NC_000004.12:g.54727298A>C
  • NG_007456.1:g.74304A>C
  • NM_000222.3:c.1621A>CMANE SELECT
  • NM_001093772.2:c.1609A>C
  • NM_001385284.1:c.1624A>C
  • NM_001385285.1:c.1621A>C
  • NM_001385286.1:c.1609A>C
  • NM_001385288.1:c.1612A>C
  • NM_001385290.1:c.1624A>C
  • NM_001385292.1:c.1612A>C
  • NP_000213.1:p.Met541Leu
  • NP_000213.1:p.Met541Leu
  • NP_001087241.1:p.Met537Leu
  • NP_001372213.1:p.Met542Leu
  • NP_001372214.1:p.Met541Leu
  • NP_001372215.1:p.Met537Leu
  • NP_001372217.1:p.Met538Leu
  • NP_001372219.1:p.Met542Leu
  • NP_001372221.1:p.Met538Leu
  • LRG_307t1:c.1621A>C
  • LRG_307:g.74304A>C
  • LRG_307p1:p.Met541Leu
  • NC_000004.11:g.55593464A>C
  • NM_000222.2:c.1621A>C
  • P10721:p.Met541Leu
Protein change:
M537L
Links:
UniProtKB: P10721#VAR_042022; dbSNP: rs3822214
NCBI 1000 Genomes Browser:
rs3822214
Molecular consequence:
  • NM_000222.3:c.1621A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001093772.2:c.1609A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385284.1:c.1624A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385285.1:c.1621A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385286.1:c.1609A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385288.1:c.1612A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385290.1:c.1624A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385292.1:c.1612A>C - 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: C0023473; 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
SCV000505727Database of Curated Mutations (DoCM)
no classification provided
not providedsomaticliterature 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

The c-kit (CD117) sequence variation M541L, but not N564K, is frequent in the general population, and is not associated with CML in Caucasians.

Krüger S, Emig M, Lohse P, Ehninger G, Hochhaus A, Schackert HK.

Leukemia. 2006 Feb;20(2):354-5; discussion 356-7. No abstract available.

PubMed [citation]
PMID:
16307017

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505727.1

#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 13, 2023