chr11:108200960:C>T Detail (hg19) (ATM, C11orf65)

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

Genome

Assembly	Position
hg19	chr11:108,200,960-108,200,960
hg38	chr11:108,330,233-108,330,233 View the variant detail on this assembly version.

HGVS

ATM
C11orf65

Type	Transcript	Protein
RefSeq	NM_001351834.1:c.7327C>T	NP_001338763.1:p.Arg2443Ter
	NM_000051.3:c.7327C>T	NP_000042.3:p.Arg2443Ter
Ensemble	ENST00000452508.7:c.7327C>T	ENST00000452508.7:p.Arg2443Ter
	ENST00000713844.1:c.7327C>T	ENST00000713844.1:p.Arg2443Ter
	ENST00000601453.3:c.7327C>T	ENST00000601453.3:p.Arg2443Ter
	ENST00000278616.10:c.7327C>T	ENST00000278616.10:p.Arg2443Ter
	ENST00000675843.1:c.7327C>T	ENST00000675843.1:p.Arg2443Ter

Type	Transcript	Protein
RefSeq	NM_001330368.1:c.641-21162G>A
Ensemble	ENST00000525729.5:c.641-21162G>A

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
Show details

Links

ATM
C11orf65

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	COSM21678	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	COSM21678	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2024-01-09	criteria provided, multiple submitters, no conflicts	Ataxia-telangiectasia syndrome	germline unknown	Detail
Pathogenic	2022-04-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-11-22	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2024-03-25	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail
Pathogenic	2019-06-11	no assertion criteria provided	Breast and/or ovarian cancer	germline	Detail
Pathogenic	2021-03-04	no assertion criteria provided	Carcinoma of pancreas	germline	Detail
Pathogenic	2023-06-07	no assertion criteria provided		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.7327C>T (p.Arg2443Ter) AND Ataxia-telangiectasia syndrome	ClinVar	Detail
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) AND not provided	ClinVar	Detail
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) AND Familial cancer of breast	ClinVar	Detail
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) AND Carcinoma of pancreas	ClinVar	Detail
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) AND Tip-toe gait	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: rs121434220 dbSNP
Genome: hg19
Position: chr11:108,200,960-108,200,960
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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