chr11:94163075:A>T 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	chr11:94,163,075-94,163,075
hg38	chr11:94,429,909-94,429,909 View the variant detail on this assembly version.

HGVS

MRE11

Type	Transcript	Protein
RefSeq	NM_001330347.1:c.2067+2T>A
	NM_005591.3:c.2070+2T>A
	NM_005590.3:c.1986+2T>A
Ensemble	ENST00000393241.8:c.2067+2T>A
	ENST00000407439.7:c.2079+2T>A
	ENST00000323929.8:c.2070+2T>A
	ENST00000323977.7:c.1986+2T>A

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
Show details

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
Likely pathogenic	2022-06-27	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2015-12-22	no assertion criteria provided	hereditary breast ovarian cancer syndrome	unknown	Detail
Uncertain significance	2023-10-08	criteria provided, single submitter	Ataxia-telangiectasia-like disorder	germline	Detail
Likely pathogenic	2023-08-19	criteria provided, single submitter	Ataxia-telangiectasia-like disorder 1	unknown	Detail
Uncertain significance	2023-01-17	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_005591.4(MRE11):c.2070+2T>A AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_005591.4(MRE11):c.2070+2T>A AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_005591.4(MRE11):c.2070+2T>A AND Ataxia-telangiectasia-like disorder	ClinVar	Detail
NM_005591.4(MRE11):c.2070+2T>A AND Ataxia-telangiectasia-like disorder 1	ClinVar	Detail
NM_005591.4(MRE11):c.2070+2T>A AND not provided	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs786202801 dbSNP
Genome: hg19
Position: chr11:94,163,075-94,163,075
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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