chr11:94490909:A>G 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	chr11:94,224,075-94,224,075 View the variant detail on this assembly version.
hg38	chr11:94,490,909-94,490,909

HGVS

MRE11

Type	Transcript	Protein
RefSeq	NM_005591.3:c.77T>C	NP_005582.1:p.Met26Thr
	NM_005590.3:c.77T>C	NP_005581.2:p.Met26Thr
	NM_001330347.1:c.77T>C	NP_001317276.1:p.Met26Thr
Ensemble	ENST00000323929.8:c.77T>C	ENST00000323929.8:p.Met26Thr
	ENST00000323977.7:c.77T>C	ENST00000323977.7:p.Met26Thr
	ENST00000393241.8:c.77T>C	ENST00000393241.8:p.Met26Thr
	ENST00000407439.7:c.86T>C	ENST00000407439.7:p.Met29Thr
	ENST00000540013.5:c.77T>C	ENST00000540013.5:p.Met26Thr

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	Conflicting classifications of pathogenicity
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	2023-03-22	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2023-10-20	criteria provided, conflicting interpretations	Ataxia-telangiectasia-like disorder 1	germline maternal unknown	Detail
Conflicting interpretations of pathogenicity	2021-11-03	criteria provided, conflicting interpretations	not provided	germline	Detail
Likely pathogenic	2023-12-04	criteria provided, single submitter	Ataxia-telangiectasia-like disorder	germline	Detail
Uncertain significance	2023-06-05	criteria provided, single submitter	not specified	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.77T>C (p.Met26Thr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) AND Ataxia-telangiectasia-like disorder 1	ClinVar	Detail
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) AND not provided	ClinVar	Detail
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) AND Ataxia-telangiectasia-like disorder	ClinVar	Detail
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) AND not specified	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: rs372068015 dbSNP
Genome: hg38
Position: chr11:94,490,909-94,490,909
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8622
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121046
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.261322141995606E-6

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