chr11:108196143:C>T Detail (hg19) (ATM, C11orf65)

Information

Genome

Assembly Position
hg19 chr11:108,196,143-108,196,143
hg38 chr11:108,325,416-108,325,416 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.6679C>T NP_000042.3:p.Arg2227Cys
NM_001351834.1:c.6679C>T NP_001338763.1:p.Arg2227Cys
Ensemble ENST00000278616.10:c.6679C>T ENST00000278616.10:p.Arg2227Cys
Type Transcript Protein
RefSeq NM_001330368.1:c.641-16345G>A
Ensemble ENST00000525729.5:c.641-16345G>A
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 COSM1644415 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 COSM1644415 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 ascending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-05-04 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-01-10 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia syndrome germline unknown Detail
Pathogenic 2021-11-29 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2022-05-17 criteria provided, single submitter Familial cancer of breast,Ataxia-telangiectasia syndrome unknown Detail
Pathogenic 2022-05-17 criteria provided, single submitter Familial cancer of breast,Ataxia-telangiectasia syndrome unknown Detail
Pathogenic 2020-08-11 criteria provided, single submitter germline Detail
Pathogenic Likely pathogenic 2024-01-30 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline 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.6679C>T (p.Arg2227Cys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) AND not provided ClinVar Detail
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) AND multiple conditions ClinVar Detail
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) AND multiple conditions ClinVar Detail
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) AND Malignant tumor of breast ClinVar Detail
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) 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
rs564652222 dbSNP
Genome
hg19
Position
chr11:108,196,143-108,196,143
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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