chr11:108114823:T> 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	chr11:108,114,823-108,114,823
hg38	chr11:108,244,096-108,244,096

HGVS

ATM

Type	Transcript	Protein
RefSeq	NM_000051.3:c.640delT	NP_000042.3:p.Ser214ProfsTer16
	NM_001351834.1:c.640delT	NP_001338763.1:p.Ser214ProfsTer16
Ensemble	ENST00000601453.3:c.640delT	ENST00000601453.3:p.Ser214ProfsTer16
	ENST00000531525.3:c.640delT	ENST00000531525.3:p.Ser214ProfsTer16
	ENST00000713844.1:c.640delT	ENST00000713844.1:p.Ser214ProfsTer16
	ENST00000675843.1:c.640delT	ENST00000675843.1:p.Ser214ProfsTer16
	ENST00000278616.10:c.640delT	ENST00000278616.10:p.Ser214ProfsTer16
	ENST00000452508.7:c.640delT	ENST00000452508.7:p.Ser214ProfsTer16

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	COSM1350741	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2023-08-30	criteria provided, multiple submitters, no conflicts	Ataxia-telangiectasia syndrome	germline unknown	Detail
Pathogenic	2018-04-27	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-02-27	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2021-01-21	criteria provided, single submitter		germline	Detail
Pathogenic	2024-01-10	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.640del (p.Ser214fs) AND Ataxia-telangiectasia syndrome	ClinVar	Detail
NM_000051.4(ATM):c.640del (p.Ser214fs) AND not provided	ClinVar	Detail
NM_000051.4(ATM):c.640del (p.Ser214fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000051.4(ATM):c.640del (p.Ser214fs) AND See cases	ClinVar	Detail
NM_000051.4(ATM):c.640del (p.Ser214fs) 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: rs786204543 dbSNP
Genome: hg19
Position: chr11:108,114,823-108,114,823
Variant Type: snv
Reference Allele: T
Alternative Allele: -

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