chr11:108159705:G> Detail (hg19) (ATM)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr11:108,159,705-108,159,705
hg38	chr11:108,288,978-108,288,978

HGVS

ATM

Type	Transcript	Protein
RefSeq	NM_001351834.1:c.4111delG	NP_001338763.1:p.Asp1371IlefsTer15
	NM_000051.3:c.4111delG	NP_000042.3:p.Asp1371IlefsTer15
Ensemble	ENST00000452508.7:c.4111delG	ENST00000452508.7:p.Asp1371IlefsTer15
	ENST00000278616.10:c.4111delG	ENST00000278616.10:p.Asp1371IlefsTer15
	ENST00000675843.1:c.4111delG	ENST00000675843.1:p.Asp1371IlefsTer15
	ENST00000601453.3:c.4111delG	ENST00000601453.3:p.Asp1371IlefsTer15
	ENST00000713844.1:c.4111delG	ENST00000713844.1:p.Asp1371IlefsTer15
	ENST00000531525.3:c.4111delG	ENST00000531525.3:p.Asp1371IlefsTer15

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
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Links

ATM

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	2024-01-11	criteria provided, multiple submitters, no conflicts	Ataxia-telangiectasia syndrome	germline	Detail
Pathogenic	2022-03-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-01-23	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	unknown	Detail
Pathogenic	2023-09-23	criteria provided, single submitter	ATM-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.709	ataxia telangiectasia	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000051.4(ATM):c.4111del AND Ataxia-telangiectasia syndrome	ClinVar	Detail
NM_000051.4(ATM):c.4111del AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000051.4(ATM):c.4111del AND Familial cancer of breast	ClinVar	Detail
NM_000051.4(ATM):c.4111del AND ATM-related disorder	ClinVar	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: rs797045114 dbSNP
Genome: hg19
Position: chr11:108,159,705-108,159,705
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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