chr11:108158325:A>G Detail (hg19) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,158,325-108,158,325
hg38 chr11:108,287,598-108,287,598 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.3994-2A>G
NM_001351834.1:c.3994-2A>G
Ensemble ENST00000713844.1:c.3994-2A>G
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 Pathogenic Likely 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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-10-24 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2024-01-28 criteria provided, single submitter Ataxia-telangiectasia syndrome germline Detail
Likely pathogenic 2023-08-15 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic Likely pathogenic 2024-01-23 criteria provided, multiple submitters, no conflicts Familial cancer of breast unknown germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.709 ataxia telangiectasia NA CLINVAR Detail
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.3994-2A>G AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.3994-2A>G AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.3994-2A>G AND not provided ClinVar Detail
NM_000051.4(ATM):c.3994-2A>G AND Familial cancer of breast ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587782276 dbSNP
Genome
hg19
Position
chr11:108,158,325-108,158,325
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8380
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)
118130
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.386100059256751E-5
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