chr11:108310285:A>G Detail (hg38) (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	chr11:108,181,012-108,181,012 View the variant detail on this assembly version.
hg38	chr11:108,310,285-108,310,285

HGVS

ATM
C11orf65

Type	Transcript	Protein
RefSeq	NM_000051.3:c.5888A>G	NP_000042.3:p.Asp1963Gly
	NM_001351834.1:c.5888A>G	NP_001338763.1:p.Asp1963Gly
Ensemble	ENST00000713844.1:c.5888A>G	ENST00000713844.1:p.Asp1963Gly
	ENST00000278616.10:c.5888A>G	ENST00000278616.10:p.Asp1963Gly
	ENST00000452508.7:c.5888A>G	ENST00000452508.7:p.Asp1963Gly
	ENST00000601453.3:c.5888A>G	ENST00000601453.3:p.Asp1963Gly
	ENST00000675843.1:c.5888A>G	ENST00000675843.1:p.Asp1963Gly

Type	Transcript	Protein
RefSeq	NM_001330368.1:c.641-1214T>C
Ensemble	ENST00000525729.5:c.641-1214T>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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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	COSM6936651	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	COSM6936651	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2023-07-28	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2023-10-06	criteria provided, single submitter	Ataxia-telangiectasia syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly) AND Ataxia-telangiectasia syndrome	ClinVar	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: rs1555110484 dbSNP
Genome: hg38
Position: chr11:108,310,285-108,310,285
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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