NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) AND Neoplasm of brain

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:: RCV000440978.1

Allele description [Variation Report for NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)]

NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)

Gene:

ALK:ALK receptor tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.2

Genomic location:

Preferred name:

NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)

HGVS:

NC_000002.12:g.29209798C>T
NG_009445.1:g.716769G>A
NM_001353765.2:c.620G>A
NM_004304.5:c.3824G>AMANE SELECT
NP_001340694.1:p.Arg207Gln
NP_004295.2:p.Arg1275Gln
LRG_488t1:c.3824G>A
LRG_488:g.716769G>A
NC_000002.11:g.29432664C>T
NM_004304.3:c.3824G>A
NM_004304.4:c.3824G>A
Q9UM73:p.Arg1275Gln

Protein change:

R1275Q; ARG1275GLN

Links:

UniProtKB: Q9UM73#VAR_063865; OMIM: 105590.0001; dbSNP: rs113994087

NCBI 1000 Genomes Browser:

rs113994087

Molecular consequence:

NM_001353765.2:c.620G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004304.5:c.3824G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neoplasm of brain
Synonyms:: Brain tumour; Brain neoplasm; Brain Neoplasms
Identifiers:: MONDO: MONDO:0021211; MeSH: D001932; MedGen: C0006118; Human Phenotype Ontology: HP:0030692

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000503770	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (Dec 26, 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

SCV000503770

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(Dec 26, 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

Differential inhibitor sensitivity of anaplastic lymphoma kinase variants found in neuroblastoma.

Bresler SC, Wood AC, Haglund EA, Courtright J, Belcastro LT, Plegaria JS, Cole K, Toporovskaya Y, Zhao H, Carpenter EL, Christensen JG, Maris JM, Lemmon MA, Mossé YP.

Sci Transl Med. 2011 Nov 9;3(108):108ra114. doi: 10.1126/scitranslmed.3002950.

PubMed [citation]

PMID:: 22072639
PMCID:: PMC3319004

Details of each submission

From Database of Curated Mutations (DoCM), SCV000503770.1

#	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: Jun 23, 2024

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