chr11:108199929:T>G Detail (hg19) (ATM, C11orf65)

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

Information

Genome

Assembly	Position
hg19	chr11:108,199,929-108,199,929
hg38	chr11:108,329,202-108,329,202 View the variant detail on this assembly version.

HGVS

ATM
C11orf65

Type	Transcript	Protein
RefSeq	NM_000051.3:c.7271T>G	NP_000042.3:p.Val2424Gly
	NM_001351834.1:c.7271T>G	NP_001338763.1:p.Val2424Gly
Ensemble	ENST00000278616.10:c.7271T>G	ENST00000278616.10:p.Val2424Gly
	ENST00000675843.1:c.7271T>G	ENST00000675843.1:p.Val2424Gly
	ENST00000452508.7:c.7271T>G	ENST00000452508.7:p.Val2424Gly
	ENST00000601453.3:c.7271T>G	ENST00000601453.3:p.Val2424Gly
	ENST00000713844.1:c.7271T>G	ENST00000713844.1:p.Val2424Gly

Type	Transcript	Protein
RefSeq	NM_001330368.1:c.641-20131A>C
Ensemble	ENST00000525729.5:c.641-20131A>C

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
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	COSM22477	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	COSM22477	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2006-11-01	no assertion criteria provided	Ataxia - telangiectasia variant	germline	Detail
Pathogenic	2006-11-01	no assertion criteria provided	T-cell prolymphocytic leukemia	somatic	Detail
risk factor	2006-11-01	no assertion criteria provided	Breast cancer, susceptibility to	germline	Detail
Pathogenic	2022-10-17	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2024-01-30	criteria provided, multiple submitters, no conflicts	Ataxia-telangiectasia syndrome	germline paternal unknown	Detail
Pathogenic	2022-03-11	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2016-08-01	no assertion criteria provided	Breast neoplasm	germline	Detail
Pathogenic	2017-05-18	criteria provided, single submitter	Ataxia-telangiectasia syndrome,Familial cancer of breast	unknown	Detail
Pathogenic	2017-05-18	criteria provided, single submitter	Ataxia-telangiectasia syndrome,Familial cancer of breast	unknown	Detail
Pathogenic	2022-03-09	reviewed by expert panel	Familial cancer of breast	germline unknown	Detail
Pathogenic	2022-07-05	criteria provided, single submitter	Breast and/or ovarian cancer	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.709	ataxia telangiectasia	NA	CLINVAR		Detail
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.126	T-cell prolymphocytic leukemia	NA	CLINVAR		Detail
0.005	Congenital chromosomal disease	We found no consistent cytotoxicity or abrogation of ATM kinase activity after I...	BeFree	17001622	Detail
0.047	breast carcinoma	Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutatio...	BeFree	17001622	Detail
0.120	Ataxia-Telangiectasia Variant	NA	CLINVAR		Detail
0.128	Malignant neoplasm of breast	Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutatio...	BeFree	17001622	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) AND Ataxia - telangiectasia variant	ClinVar	Detail
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) AND T-cell prolymphocytic leukemia	ClinVar	Detail
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) AND Breast cancer, susceptibility to	ClinVar	Detail
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) AND Ataxia-telangiectasia syndrome	ClinVar	Detail
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) AND not provided	ClinVar	Detail
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) AND Breast neoplasm	ClinVar	Detail
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) AND multiple conditions	ClinVar	Detail
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) AND multiple conditions	ClinVar	Detail
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) AND Familial cancer of breast	ClinVar	Detail
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) AND Breast and/or ovarian cancer	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
We found no consistent cytotoxicity or abrogation of ATM kinase activity after IR in seven heterozyg...	DisGeNET	Detail
Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression...	DisGeNET	Detail
NA	DisGeNET	Detail
Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression...	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: rs28904921 dbSNP
Genome: hg19
Position: chr11:108,199,929-108,199,929
Variant Type: snv
Reference Allele: T
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8274
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): 117236
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.558940939643113E-5

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