chr2:29445273:G>A Detail (hg19) (ALK)

Information

Genome

Assembly Position
hg19 chr2:29,445,273-29,445,273
hg38 chr2:29,222,407-29,222,407 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004304.4:c.3452C>T NP_004295.2:p.Thr1151Met
Ensemble ENST00000389048.8:c.3452C>T ENST00000389048.8:p.Thr1151Met
ENST00000618119.4:c.2321C>T ENST00000618119.4:p.Thr774Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM98478 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-01-05 criteria provided, conflicting interpretations Neuroblastoma, susceptibility to, 3 germline Detail
Pathogenic 2014-10-02 no assertion criteria provided neuroblastoma somatic Detail
Uncertain significance 2022-02-28 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Neuroblastoma, susceptibility to, 3 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met) AND Neuroblastoma, susceptibility to, 3 ClinVar Detail
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met) AND Neuroblastoma ClinVar Detail
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET 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
rs113994091 dbSNP
Genome
hg19
Position
chr2:29,445,273-29,445,273
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120960
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.787037037037037E-5
Variant (CIViC) (CIViC Variant)
T1151M
Transcript 1 (CIViC Variant)
ENST00000389048.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1493
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