chr11:108172506:C>G Detail (hg19) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,172,506-108,172,506
hg38 chr11:108,301,779-108,301,779 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.5309C>G NP_000042.3:p.Ser1770Ter
NM_001351834.1:c.5309C>G NP_001338763.1:p.Ser1770Ter
Ensemble ENST00000675843.1:c.5309C>G ENST00000675843.1:p.Ser1770Ter
Summary

MGeND

Clinical significance
Variant entry
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 607585 OMIM
HGNC 795 HGNC
Ensembl ENSG00000149311 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM21881 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1997-10-01 no assertion criteria provided T-cell prolymphocytic leukemia somatic Detail
Pathogenic 2023-01-15 criteria provided, single submitter Ataxia-telangiectasia syndrome germline Detail
Pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Pathogenic 2023-06-26 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.5309C>G (p.Ser1770Ter) AND T-cell prolymphocytic leukemia ClinVar Detail
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) AND Familial cancer of breast ClinVar Detail
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) 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
rs121434223 dbSNP
Genome
hg19
Position
chr11:108,172,506-108,172,506
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser