chr11:108250701:G>T Detail (hg38) (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	chr11:108,121,428-108,121,428 View the variant detail on this assembly version.
hg38	chr11:108,250,701-108,250,701

HGVS

ATM

Type	Transcript	Protein
RefSeq	NM_000051.3:c.1236G>T	NP_000042.3:p.Trp412Cys
	NM_001351834.1:c.1236G>T	NP_001338763.1:p.Trp412Cys
Ensemble	ENST00000278616.10:c.1236G>T	ENST00000278616.10:p.Trp412Cys
	ENST00000452508.7:c.1236G>T	ENST00000452508.7:p.Trp412Cys
	ENST00000531525.3:c.1236G>T	ENST00000531525.3:p.Trp412Cys
	ENST00000601453.3:c.1236G>T	ENST00000601453.3:p.Trp412Cys
	ENST00000675843.1:c.1236G>T	ENST00000675843.1:p.Trp412Cys
	ENST00000713844.1:c.1236G>T	ENST00000713844.1:p.Trp412Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
Uncertain significance	2018-07-02	criteria provided, single submitter	Ataxia-telangiectasia syndrome	unknown	Detail
Uncertain significance	2022-01-13	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.002	cervix carcinoma	Genetic polymorphisms and cervical cancer development: ATM G5557A and p53bp1 C12...	BeFree	22200742	Detail
0.002	Malignant tumor of cervix	Genetic polymorphisms and cervical cancer development: ATM G5557A and p53bp1 C12...	BeFree	22200742	Detail
<0.001	cervix carcinoma	Genetic polymorphisms and cervical cancer development: ATM G5557A and p53bp1 C12...	BeFree	22200742	Detail
<0.001	Malignant tumor of cervix	Genetic polymorphisms and cervical cancer development: ATM G5557A and p53bp1 C12...	BeFree	22200742	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000051.4(ATM):c.1236G>T (p.Trp412Cys) AND Ataxia-telangiectasia syndrome	ClinVar	Detail
NM_000051.4(ATM):c.1236G>T (p.Trp412Cys) AND not provided	ClinVar	Detail
Genetic polymorphisms and cervical cancer development: ATM G5557A and p53bp1 C1236G.	DisGeNET	Detail
Genetic polymorphisms and cervical cancer development: ATM G5557A and p53bp1 C1236G.	DisGeNET	Detail
Genetic polymorphisms and cervical cancer development: ATM G5557A and p53bp1 C1236G.	DisGeNET	Detail
Genetic polymorphisms and cervical cancer development: ATM G5557A and p53bp1 C1236G.	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: rs79220522 dbSNP
Genome: hg38
Position: chr11:108,250,701-108,250,701
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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