chr11:108325782:G>C Detail (hg38) (ATM, C11orf65)

Information

Genome

Assembly Position
hg19 chr11:108,196,509-108,196,509 View the variant detail on this assembly version.
hg38 chr11:108,325,782-108,325,782

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.6807+238G>C
NM_001351834.1:c.6807+238G>C
Ensemble ENST00000278616.10:c.6807+238G>C
Type Transcript Protein
RefSeq NM_001330368.1:c.641-16711C>G
Ensemble ENST00000525729.5:c.641-16711C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.472
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 tgv43964845 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 28519 HGNC
Ensembl ENSG00000166323 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv43964845 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-03-27 criteria provided, single submitter not specified germline Detail
Benign 2018-06-22 criteria provided, single submitter not provided 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
0.006 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.6807+238G>C AND not specified ClinVar Detail
NM_000051.4(ATM):c.6807+238G>C AND not provided ClinVar Detail
In the analyses of ATM/TP53 (rs1801516/rs664677/rs609429/rs1042522) combinations, the GG/TC/CG/GC ge... 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
rs609429 dbSNP
Genome
hg38
Position
chr11:108,325,782-108,325,782
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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))
rs609429
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4719
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7908
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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