chr11:94437206:G>A Detail (hg38) (MRE11)

Information

Genome

Assembly Position
hg19 chr11:94,170,372-94,170,372 View the variant detail on this assembly version.
hg38 chr11:94,437,206-94,437,206

HGVS

Type Transcript Protein
RefSeq NM_005591.3:c.1897C>T NP_005582.1:p.Arg633Ter
NM_005590.3:c.1813C>T NP_005581.2:p.Arg605Ter
NM_001330347.1:c.1894C>T NP_001317276.1:p.Arg632Ter
Summary

MGeND

Clinical significance
Variant entry
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
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 tgv43649754 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2017-09-01 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia-like disorder 1 germline Detail
Pathogenic 2021-12-13 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-10-14 criteria provided, single submitter Ataxia-telangiectasia-like disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.125 Ataxia-telangiectasia-like disorder NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter) AND Ataxia-telangiectasia-like disorder 1 ClinVar Detail
NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter) AND Ataxia-telangiectasia-like disorder 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
rs137852759 dbSNP
Genome
hg38
Position
chr11:94,437,206-94,437,206
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))
rs137852759
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))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8624
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
120878
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4818411952547197E-5
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