chr11:108170479:G>C Detail (hg19) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,170,479-108,170,479
hg38 chr11:108,299,752-108,299,752 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001351834.1:c.5044G>C NP_001338763.1:p.Asp1682His
NM_000051.3:c.5044G>C NP_000042.3:p.Asp1682His
Ensemble ENST00000452508.7:c.5044G>C ENST00000452508.7:p.Asp1682His
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 607585 OMIM
HGNC 795 HGNC
Ensembl ENSG00000149311 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM22473 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1997-09-01 no assertion criteria provided T-cell prolymphocytic leukemia somatic Detail
Uncertain significance 2020-12-22 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.126 T-cell prolymphocytic leukemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.5044G>C (p.Asp1682His) AND T-cell prolymphocytic leukemia ClinVar Detail
NM_000051.4(ATM):c.5044G>C (p.Asp1682His) 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
rs121434217 dbSNP
Genome
hg19
Position
chr11:108,170,479-108,170,479
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
D1682H
Transcript 1 (CIViC Variant)
ENST00000278616.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1168
Genome browser