chr11:94211948:G>A Detail (hg19) (MRE11)

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

Genome

Assembly	Position
hg19	chr11:94,211,948-94,211,948
hg38	chr11:94,478,782-94,478,782 View the variant detail on this assembly version.

HGVS

MRE11

Type	Transcript	Protein
RefSeq	NM_001330347.1:c.497C>T	NP_001317276.1:p.Pro166Leu
	NM_005590.3:c.497C>T	NP_005581.2:p.Pro166Leu
	NM_005591.3:c.497C>T	NP_005582.1:p.Pro166Leu
Ensemble	ENST00000393241.8:c.497C>T	ENST00000393241.8:p.Pro166Leu
	ENST00000407439.7:c.506C>T	ENST00000407439.7:p.Pro169Leu
	ENST00000323977.7:c.497C>T	ENST00000323977.7:p.Pro166Leu
	ENST00000323929.8:c.497C>T	ENST00000323929.8:p.Pro166Leu
	ENST00000540013.5:c.497C>T	ENST00000540013.5:p.Pro166Leu

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

MRE11

Type	Database	ID	Link
Gene	MIM	600814	OMIM
	HGNC	7230	HGNC
	Ensembl	ENSG00000020922	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	2019-10-21	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2022-06-20	criteria provided, single submitter	Ataxia-telangiectasia-like disorder	germline	Detail
Uncertain significance	2021-11-18	criteria provided, single submitter	Ataxia-telangiectasia-like disorder 1	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.125	Ataxia-telangiectasia-like disorder	NA	CLINVAR		Detail
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_005591.4(MRE11):c.497C>T (p.Pro166Leu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_005591.4(MRE11):c.497C>T (p.Pro166Leu) AND Ataxia-telangiectasia-like disorder	ClinVar	Detail
NM_005591.4(MRE11):c.497C>T (p.Pro166Leu) AND Ataxia-telangiectasia-like disorder 1	ClinVar	Detail
NA	DisGeNET	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: rs587782308 dbSNP
Genome: hg19
Position: chr11:94,211,948-94,211,948
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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