chr11:94180454:G>A Detail (hg19) (MRE11)

Information

Genome

Assembly Position
hg19 chr11:94,180,454-94,180,454
hg38 chr11:94,447,288-94,447,288 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005591.3:c.1714C>T NP_005582.1:p.Arg572Ter
NM_001330347.1:c.1714C>T NP_001317276.1:p.Arg572Ter
NM_005590.3:c.1714C>T NP_005581.2:p.Arg572Ter
Summary

MGeND

Clinical significance not provided
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 tgv43650069 TogoVar
COSMIC COSM378985 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided malignant neoplasm of rectum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-10-30 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia-like disorder 1 germline unknown Detail
Pathogenic 2021-06-28 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-12-11 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia-like disorder germline Detail
Pathogenic 2021-02-01 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.125 Ataxia-telangiectasia-like disorder NA CLINVAR Detail
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) AND Ataxia-telangiectasia-like disorder 1 ClinVar Detail
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) AND Ataxia-telangiectasia-like disorder ClinVar Detail
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) AND not provided ClinVar Detail
NA DisGeNET 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
rs137852761 dbSNP
Genome
hg19
Position
chr11:94,180,454-94,180,454
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs137852761
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8650
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)
121386
Allele Counts in All Race (ExAC)
9
Heterozygous Counts in All Race (ExAC)
9
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.414364094706144E-5
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