chr11:108188101:C>A Detail (hg19) (ATM, C11orf65)

Information

Genome

Assembly Position
hg19 chr11:108,188,101-108,188,101
hg38 chr11:108,317,374-108,317,374 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001351834.1:c.6200C>A NP_001338763.1:p.Ala2067Asp
NM_000051.3:c.6200C>A NP_000042.3:p.Ala2067Asp
Ensemble ENST00000452508.7:c.6200C>A ENST00000452508.7:p.Ala2067Asp
Type Transcript Protein
RefSeq NM_001330368.1:c.641-8303G>T
Ensemble ENST00000525729.5:c.641-8303G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 COSM1235429 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 COSM1235429 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2012-02-28 no assertion criteria provided Ataxia - telangiectasia variant germline Detail
Pathogenic 2023-09-13 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Likely pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia syndrome germline unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Ataxia-telangiectasia syndrome,Familial cancer of breast unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Ataxia-telangiectasia syndrome,Familial cancer of breast unknown Detail
Pathogenic Likely pathogenic 2021-11-03 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic no assertion criteria provided unknown Detail
Pathogenic Likely pathogenic 2024-01-29 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Likely pathogenic 2023-01-19 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.120 Ataxia-Telangiectasia Variant NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) AND Ataxia - telangiectasia variant ClinVar Detail
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) AND multiple conditions ClinVar Detail
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) AND multiple conditions ClinVar Detail
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) AND not provided ClinVar Detail
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) AND Malignant tumor of breast ClinVar Detail
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) AND Familial cancer of breast ClinVar Detail
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) AND Breast and/or ovarian cancer 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
rs397514577 dbSNP
Genome
hg19
Position
chr11:108,188,101-108,188,101
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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