chr11:94180442:G>C Detail (hg19) (MRE11)

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

Information

Genome

Assembly	Position
hg19	chr11:94,180,442-94,180,442
hg38	chr11:94,447,276-94,447,276 View the variant detail on this assembly version.

HGVS

MRE11

Type	Transcript	Protein
RefSeq	NM_005590.3:c.1726C>G	NP_005581.2:p.Arg576Gly
	NM_005591.3:c.1726C>G	NP_005582.1:p.Arg576Gly
	NM_001330347.1:c.1726C>G	NP_001317276.1:p.Arg576Gly
Ensemble	ENST00000323977.7:c.1726C>G	ENST00000323977.7:p.Arg576Gly
	ENST00000323929.8:c.1726C>G	ENST00000323929.8:p.Arg576Gly
	ENST00000393241.8:c.1726C>G	ENST00000393241.8:p.Arg576Gly
	ENST00000407439.7:c.1735C>G	ENST00000407439.7:p.Arg579Gly

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	Uncertain significance
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
Uncertain significance	2023-09-01	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2022-07-11	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Uncertain significance	2024-01-25	criteria provided, single submitter	Ataxia-telangiectasia-like disorder	germline	Detail
Uncertain significance	2019-09-26	criteria provided, single submitter		germline	Detail
Uncertain significance	2022-10-19	criteria provided, single submitter	MRE11-related disorder	germline	Detail
Uncertain significance	2023-02-20	criteria provided, single submitter	Ataxia-telangiectasia-like disorder 1	unknown	Detail
Uncertain significance	2015-12-23	criteria provided, single submitter	not provided	unknown	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.1726C>G (p.Arg576Gly) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly) AND not specified	ClinVar	Detail
NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly) AND Ataxia-telangiectasia-like disorder	ClinVar	Detail
NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly) AND See cases	ClinVar	Detail
NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly) AND MRE11-related disorder	ClinVar	Detail
NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly) AND Ataxia-telangiectasia-like disorder 1	ClinVar	Detail
NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly) AND not provided	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: rs774277300 dbSNP
Genome: hg19
Position: chr11:94,180,442-94,180,442
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.155802126675913E-4
Chromosome Counts in All Race (ExAC): 121392
Allele Counts in All Race (ExAC): 6
Heterozygous Counts in All Race (ExAC): 6
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.9426650850138396E-5

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