chr11:108186796:G>A Detail (hg19) (ATM, C11orf65)

Information

Genome

Assembly Position
hg19 chr11:108,186,796-108,186,796
hg38 chr11:108,316,069-108,316,069 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001351834.1:c.6154G>A NP_001338763.1:p.Glu2052Lys
NM_000051.3:c.6154G>A NP_000042.3:p.Glu2052Lys
Ensemble ENST00000452508.7:c.6154G>A ENST00000452508.7:p.Glu2052Lys
Type Transcript Protein
RefSeq NM_001330368.1:c.641-6998C>T
Ensemble ENST00000525729.5:c.641-6998C>T
Summary

MGeND

Clinical significance not provided
Variant entry 1
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 607585 OMIM
HGNC 795 HGNC
Ensembl ENSG00000149311 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6984508 COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 28519 HGNC
Ensembl ENSG00000166323 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6984508 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 MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-06-30 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2024-01-28 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia syndrome germline maternal unknown Detail
Conflicting interpretations of pathogenicity 2022-09-16 criteria provided, conflicting interpretations not provided unknown germline Detail
Conflicting interpretations of pathogenicity 2023-10-28 criteria provided, conflicting interpretations Familial cancer of breast germline unknown Detail
Uncertain significance no assertion criteria provided unknown 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.6154G>A (p.Glu2052Lys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) AND not provided ClinVar Detail
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) AND Familial cancer of breast ClinVar Detail
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) AND Malignant tumor of breast ClinVar Detail
NA DisGeNET 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
rs202206540 dbSNP
Genome
hg19
Position
chr11:108,186,796-108,186,796
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8614
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)
121210
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
8
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.600115502021286E-5
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