chr2:29213993:A>C Detail (hg38) (ALK)

Information

Genome

Assembly Position
hg19 chr2:29,436,859-29,436,859 View the variant detail on this assembly version.
hg38 chr2:29,213,993-29,213,993

HGVS

Type Transcript Protein
RefSeq NM_004304.4:c.3734T>G NP_004295.2:p.Phe1245Cys
Ensemble ENST00000389048.8:c.3734T>G ENST00000389048.8:p.Phe1245Cys
ENST00000618119.4:c.2603T>G ENST00000618119.4:p.Phe868Cys
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 105590 OMIM
HGNC 427 HGNC
Ensembl ENSG00000171094 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM28500 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic neuroblastoma germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2015-10-07 no assertion criteria provided Neuroblastoma, susceptibility to, 3 somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided neuroblastoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
neuroblastoma Lorlatinib D Predictive Supports Sensitivity/Response Somatic 3 26554404 Detail
neuroblastoma Crizotinib C Predictive Supports Resistance Somatic 3 23598171 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Patient derived xenografts of neuroblastoma Felix cells with F1245C ALK mutation in CB17 SCID mice s... CIViC Evidence Detail
A participant in Children's Oncology Group (COG) study AVDL0912 with measurable neuroblastoma mutate... CIViC Evidence Detail
NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys) AND Neuroblastoma, susceptibility to, 3 ClinVar Detail
NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys) AND Neuroblastoma ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs863225283 dbSNP
Genome
hg38
Position
chr2:29,213,993-29,213,993
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
F1245C
Transcript 1 (CIViC Variant)
ENST00000389048.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/549
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