chr11:108117816:GAAA> Detail (hg19) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,117,816-108,117,819
hg38 chr11:108,247,089-108,247,092 

HGVS

Type Transcript Protein
RefSeq NM_001351834.1:c.1027_1030delGAAA NP_001338763.1:p.Glu343IlefsTer2
NM_000051.3:c.1027_1030delGAAA NP_000042.3:p.Glu343IlefsTer2
Ensemble ENST00000675843.1:c.1027_1030delGAAA ENST00000675843.1:p.Glu343IlefsTer2
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
Pathogenic Likely pathogenic 2024-01-24 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia syndrome germline unknown Detail
Pathogenic 2022-09-06 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-05-05 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2024-01-11 criteria provided, multiple submitters, no conflicts Familial cancer of breast 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.1027_1030del (p.Glu343fs) AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) AND not provided ClinVar Detail
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) AND Familial cancer 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
rs587780612 dbSNP
Genome
hg19
Position
chr11:108,117,816-108,117,819
Variant Type
snv
Reference Allele
GAAA
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8642
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)
121020
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4789291026276648E-5
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