chr11:108299752:G>C 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	chr11:108,170,479-108,170,479 View the variant detail on this assembly version.
hg38	chr11:108,299,752-108,299,752

HGVS

ATM

Type	Transcript	Protein
RefSeq	NM_000051.3:c.5044G>C	NP_000042.3:p.Asp1682His
	NM_001351834.1:c.5044G>C	NP_001338763.1:p.Asp1682His
Ensemble	ENST00000278616.10:c.5044G>C	ENST00000278616.10:p.Asp1682His
	ENST00000452508.7:c.5044G>C	ENST00000452508.7:p.Asp1682His
	ENST00000601453.3:c.5044G>C	ENST00000601453.3:p.Asp1682His
	ENST00000675843.1:c.5044G>C	ENST00000675843.1:p.Asp1682His
	ENST00000713844.1:c.5044G>C	ENST00000713844.1:p.Asp1682His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	COSM22473	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1997-09-01	no assertion criteria provided	T-cell prolymphocytic leukemia	somatic	Detail
Uncertain significance	2020-12-22	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.126	T-cell prolymphocytic leukemia	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000051.4(ATM):c.5044G>C (p.Asp1682His) AND T-cell prolymphocytic leukemia	ClinVar	Detail
NM_000051.4(ATM):c.5044G>C (p.Asp1682His) AND Hereditary cancer-predisposing syndrome	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: rs121434217 dbSNP
Genome: hg38
Position: chr11:108,299,752-108,299,752
Variant Type: snv
Reference Allele: G
Alternative Allele: C
Variant (CIViC) (CIViC Variant): D1682H
Transcript 1 (CIViC Variant): ENST00000278616.4
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1168

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