chr11:108143182:C>T Detail (hg19) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,143,182-108,143,182
hg38 chr11:108,272,455-108,272,455 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001351834.1:c.3078-77C>T
NM_000051.3:c.3078-77C>T
Ensemble ENST00000675843.1:c.3078-77C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.406
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 607585 OMIM
HGNC 795 HGNC
Ensembl ENSG00000149311 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv43961506 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-07-01 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia syndrome germline Detail
Benign 2023-11-12 criteria provided, single submitter not specified germline Detail
Benign 2015-03-03 criteria provided, single submitter not provided germline Detail
Benign 2022-04-19 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Papillary thyroid carcinoma In the analyses of ATM/TP53 (rs1801516/rs664677/rs609429/rs1042522) combinations... BeFree 19286843 Detail
0.005 Carcinoma of lung ATM rs664677 polymorphism was associated with decreased lung cancer risk as well... BeFree 22203481 Detail
0.021 Malignant neoplasm of lung ATM rs664677 polymorphism was associated with decreased lung cancer risk as well... BeFree 22203481 Detail
0.047 breast carcinoma ATM rs664677 polymorphism was associated with decreased lung cancer risk as well... BeFree 22203481 Detail
0.128 Malignant neoplasm of breast ATM rs664677 polymorphism was associated with decreased lung cancer risk as well... BeFree 22203481 Detail
0.006 Papillary thyroid carcinoma In the analyses of ATM/TP53 (rs1801516/rs664677/rs609429/rs1042522) combinations... BeFree 19286843 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.3078-77C>T AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.3078-77C>T AND not specified ClinVar Detail
NM_000051.4(ATM):c.3078-77C>T AND not provided ClinVar Detail
NM_000051.4(ATM):c.3078-77C>T AND Hereditary breast ovarian cancer syndrome ClinVar Detail
In the analyses of ATM/TP53 (rs1801516/rs664677/rs609429/rs1042522) combinations, the GG/TC/CG/GC ge... DisGeNET Detail
ATM rs664677 polymorphism was associated with decreased lung cancer risk as well as increased breast... DisGeNET Detail
ATM rs664677 polymorphism was associated with decreased lung cancer risk as well as increased breast... DisGeNET Detail
ATM rs664677 polymorphism was associated with decreased lung cancer risk as well as increased breast... DisGeNET Detail
ATM rs664677 polymorphism was associated with decreased lung cancer risk as well as increased breast... DisGeNET Detail
In the analyses of ATM/TP53 (rs1801516/rs664677/rs609429/rs1042522) combinations, the GG/TC/CG/GC ge... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs664677 dbSNP
Genome
hg19
Position
chr11:108,143,182-108,143,182
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs664677
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4056
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6797
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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