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

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

Type Transcript Protein
RefSeq NM_005590.3:c.1726C>T NP_005581.2:p.Arg576Ter
NM_001330347.1:c.1726C>T NP_001317276.1:p.Arg576Ter
NM_005591.3:c.1726C>T NP_005582.1:p.Arg576Ter
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
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 tgv43650058 TogoVar
COSMIC COSM6715009 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-11-01 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-10-06 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia-like disorder 1 germline paternal unknown Detail
Pathogenic 2023-12-11 criteria provided, single submitter Ataxia-telangiectasia-like disorder germline Detail
Pathogenic 2021-04-01 criteria provided, single submitter not provided germline Detail
Pathogenic 2021-09-12 no assertion criteria provided Colonic neoplasm germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) AND Ataxia-telangiectasia-like disorder 1 ClinVar Detail
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) AND Ataxia-telangiectasia-like disorder ClinVar Detail
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) AND not provided ClinVar Detail
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) AND Colonic neoplasm 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
A
East Asian Chromosome Counts (ExAC)
8652
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)
121392
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.295110056675893E-5
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