chr11:94467821:G>A Detail (hg38) (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	chr11:94,200,987-94,200,987 View the variant detail on this assembly version.
hg38	chr11:94,467,821-94,467,821

HGVS

MRE11

Type	Transcript	Protein
RefSeq	NM_005591.3:c.1090C>T	NP_005582.1:p.Arg364Ter
	NM_005590.3:c.1090C>T	NP_005581.2:p.Arg364Ter
	NM_001330347.1:c.1090C>T	NP_001317276.1:p.Arg364Ter
Ensemble	ENST00000323929.8:c.1090C>T	ENST00000323929.8:p.Arg364Ter
	ENST00000323977.7:c.1090C>T	ENST00000323977.7:p.Arg364Ter
	ENST00000393241.8:c.1090C>T	ENST00000393241.8:p.Arg364Ter
	ENST00000407439.7:c.1099C>T	ENST00000407439.7:p.Arg367Ter

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

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	tgv218131452	TogoVar
	COSMIC	COSM4037699	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-12-12	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-03-20	criteria provided, multiple submitters, no conflicts	Ataxia-telangiectasia-like disorder 1	germline inherited unknown	Detail
Pathogenic	2024-01-21	criteria provided, single submitter	Ataxia-telangiectasia-like disorder	germline	Detail
Pathogenic	2019-08-01	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2022-12-05	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	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.1090C>T (p.Arg364Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter) AND Ataxia-telangiectasia-like disorder 1	ClinVar	Detail
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter) AND Ataxia-telangiectasia-like disorder	ClinVar	Detail
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter) AND not provided	ClinVar	Detail
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter) AND Hereditary breast ovarian cancer 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: rs371077728 dbSNP
Genome: hg38
Position: chr11:94,467,821-94,467,821
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Homozygous Counts in All Race (ExAC): 0
East Asian Chromosome Counts (ExAC): 8630
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1587485515643106E-4
Chromosome Counts in All Race (ExAC): 121254
Allele Counts in All Race (ExAC): 6
Heterozygous Counts in All Race (ExAC): 6
Allele Frequency in All Race (ExAC): 4.948290365678658E-5

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