chr11:108181012:A>G Detail (hg19) (ATM, C11orf65)

Information

Genome

Assembly Position
hg19 chr11:108,181,012-108,181,012
hg38 chr11:108,310,285-108,310,285 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001351834.1:c.5888A>G NP_001338763.1:p.Asp1963Gly
NM_000051.3:c.5888A>G NP_000042.3:p.Asp1963Gly
Ensemble ENST00000452508.7:c.5888A>G ENST00000452508.7:p.Asp1963Gly
Type Transcript Protein
RefSeq NM_001330368.1:c.641-1214T>C
Ensemble ENST00000525729.5:c.641-1214T>C
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 COSM6936651 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 COSM6936651 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Uncertain significance 2021/03/19 control germline MGS000047
(TMGS000111) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-07-28 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-10-06 criteria provided, single submitter Ataxia-telangiectasia syndrome germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly) AND Ataxia-telangiectasia syndrome ClinVar 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
rs1555110484 dbSNP
Genome
hg19
Position
chr11:108,181,012-108,181,012
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser