chr11:108227849:C>T 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	chr11:108,098,576-108,098,576 View the variant detail on this assembly version.
hg38	chr11:108,227,849-108,227,849

HGVS

ATM

Type	Transcript	Protein
RefSeq	NM_000051.3:c.146C>T	NP_000042.3:p.Ser49Phe
	NM_001351834.1:c.146C>T	NP_001338763.1:p.Ser49Phe
Ensemble	ENST00000278616.10:c.146C>T	ENST00000278616.10:p.Ser49Phe
	ENST00000452508.7:c.146C>T	ENST00000452508.7:p.Ser49Phe
	ENST00000526567.5:c.146C>T	ENST00000526567.5:p.Ser49Phe
	ENST00000530958.5:c.146C>T	ENST00000530958.5:p.Ser49Phe
	ENST00000531525.3:c.146C>T	ENST00000531525.3:p.Ser49Phe
	ENST00000532931.6:c.146C>T	ENST00000532931.6:p.Ser49Phe
	ENST00000601453.3:c.146C>T	ENST00000601453.3:p.Ser49Phe
	ENST00000639240.1:c.146C>T	ENST00000639240.1:p.Ser49Phe
	ENST00000639953.1:c.146C>T	ENST00000639953.1:p.Ser49Phe
	ENST00000640388.1:c.146C>T	ENST00000640388.1:p.Ser49Phe
	ENST00000675843.1:c.146C>T	ENST00000675843.1:p.Ser49Phe
	ENST00000682465.1:c.146C>T	ENST00000682465.1:p.Ser49Phe
	ENST00000683150.1:c.146C>T	ENST00000683150.1:p.Ser49Phe
	ENST00000683468.1:c.146C>T	ENST00000683468.1:p.Ser49Phe
	ENST00000683914.2:c.146C>T	ENST00000683914.2:p.Ser49Phe
	ENST00000684029.1:c.146C>T	ENST00000684029.1:p.Ser49Phe
	ENST00000713844.1:c.146C>T	ENST00000713844.1:p.Ser49Phe
	ENST00000713845.1:c.146C>T	ENST00000713845.1:p.Ser49Phe
	ENST00000713846.1:c.146C>T	ENST00000713846.1:p.Ser49Phe
	ENST00000713847.1:c.146C>T	ENST00000713847.1:p.Ser49Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-12-30	criteria provided, single submitter	Ataxia-telangiectasia syndrome	germline	Detail
Uncertain significance	2023-07-06	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2023-06-29	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	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
0.128	Malignant neoplasm of breast	A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more comm...	BeFree	15042666	Detail
0.246	melanoma	Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus no...	BeFree	18565893	Detail
0.007	prostate carcinoma	Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus no...	BeFree	18565893	Detail
0.011	Malignant neoplasm of prostate	Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus no...	BeFree	18565893	Detail
0.047	breast carcinoma	A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more comm...	BeFree	15042666	Detail
0.047	breast carcinoma	The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer...	BeFree	16652348	Detail
0.709	ataxia telangiectasia	Eight coding SNPs were chosen in ATM (Ser49Cys), BID (Ser56Cys), CASP8 (Asp302Hi...	BeFree	21396839	Detail
0.128	Malignant neoplasm of breast	The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer...	BeFree	16652348	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000051.4(ATM):c.146C>T (p.Ser49Phe) AND Ataxia-telangiectasia syndrome	ClinVar	Detail
NM_000051.4(ATM):c.146C>T (p.Ser49Phe) AND not provided	ClinVar	Detail
NM_000051.4(ATM):c.146C>T (p.Ser49Phe) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more common in patients with ...	DisGeNET	Detail
Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus noncarriers were 1.2 (...	DisGeNET	Detail
Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus noncarriers were 1.2 (...	DisGeNET	Detail
Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus noncarriers were 1.2 (...	DisGeNET	Detail
A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more common in patients with ...	DisGeNET	Detail
The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer.	DisGeNET	Detail
Eight coding SNPs were chosen in ATM (Ser49Cys), BID (Ser56Cys), CASP8 (Asp302His), CASP10 (Val410Il...	DisGeNET	Detail
The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer.	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: rs1800054 dbSNP
Genome: hg38
Position: chr11:108,227,849-108,227,849
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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