chr11:108301658:C>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	chr11:108,172,385-108,172,385 View the variant detail on this assembly version.
hg38	chr11:108,301,658-108,301,658

HGVS

ATM

Type	Transcript	Protein
RefSeq	NM_000051.3:c.5188C>T	NP_000042.3:p.Arg1730Ter
	NM_001351834.1:c.5188C>T	NP_001338763.1:p.Arg1730Ter
Ensemble	ENST00000278616.10:c.5188C>T	ENST00000278616.10:p.Arg1730Ter
	ENST00000452508.7:c.5188C>T	ENST00000452508.7:p.Arg1730Ter
	ENST00000601453.3:c.5188C>T	ENST00000601453.3:p.Arg1730Ter
	ENST00000675843.1:c.5188C>T	ENST00000675843.1:p.Arg1730Ter
	ENST00000713844.1:c.5188C>T	ENST00000713844.1:p.Arg1730Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

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	COSM172204	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2024-01-24	criteria provided, multiple submitters, no conflicts	Ataxia-telangiectasia syndrome	germline unknown	Detail
Pathogenic	2022-08-29	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2018-02-12	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2021-07-01	no assertion criteria provided	Gastric cancer	germline	Detail
Pathogenic	2024-01-25	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	unknown	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.5188C>T (p.Arg1730Ter) AND Ataxia-telangiectasia syndrome	ClinVar	Detail
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) AND not provided	ClinVar	Detail
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) AND Gastric cancer	ClinVar	Detail
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) AND Familial cancer of breast	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: rs764389018 dbSNP
Genome: hg38
Position: chr11:108,301,658-108,301,658
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8640
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121322
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.242528148233626E-6

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