chr11:108235816:TCTCA> Detail (hg38) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,106,543-108,106,547 
hg38 chr11:108,235,816-108,235,820

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.478_482delTCTCA NP_000042.3:p.Ser160AlafsTer23
NM_001351834.1:c.478_482delTCTCA NP_001338763.1:p.Ser160AlafsTer23
Ensemble ENST00000278616.10:c.478_482delTCTCA ENST00000278616.10:p.Ser160AlafsTer23
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:[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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 tgv43958892 TogoVar
COSMIC COSM758337 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-01-17 criteria provided, multiple submitters, no conflicts Ataxia-telangiectasia syndrome biparental germline unknown Detail
Pathogenic 2022-05-11 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Likely pathogenic 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-01-10 criteria provided, multiple submitters, no conflicts Familial cancer of breast unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.709 ataxia telangiectasia NA CLINVAR Detail
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.478_482del (p.Ser160fs) AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.478_482del (p.Ser160fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.478_482del (p.Ser160fs) AND not provided ClinVar Detail
NM_000051.4(ATM):c.478_482del (p.Ser160fs) AND Familial cancer of breast 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
rs587780624 dbSNP
Genome
hg38
Position
chr11:108,235,816-108,235,820
Variant Type
snv
Reference Allele
TCTCA
Alternative Allele
-
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))
rs587780624
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
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