chr13:32907411:CTTAT> Detail (hg19) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,907,411-32,907,415
hg38 chr13:32,333,274-32,333,278 

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.1796_1800delCTTAT NP_000050.2:p.Ser599Ter
Ensemble ENST00000700202.2:c.1796_1800delCTTAT ENST00000700202.2:p.Ser599Ter
ENST00000713678.1:c.1796_1800delCTTAT ENST00000713678.1:p.Ser599Ter
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
Review star
Show details
Links
Type Database ID Link
Gene MIM 600185 OMIM
HGNC 1101 HGNC
Ensembl ENSG00000139618 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv48210310 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-04-22 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 2 germline unknown Detail
Pathogenic 2023-05-11 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2022-03-09 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-01-12 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Pathogenic no assertion criteria provided unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast,Glioma susceptibility 3,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast,Glioma susceptibility 3,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast,Glioma susceptibility 3,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast,Glioma susceptibility 3,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast,Glioma susceptibility 3,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast,Glioma susceptibility 3,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast,Glioma susceptibility 3,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2021-07-14 criteria provided, single submitter Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast,Glioma susceptibility 3,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2023-05-13 criteria provided, single submitter Familial cancer of breast unknown Detail
Pathogenic 2024-02-14 criteria provided, single submitter BRCA2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Breast-ovarian cancer, familial, susceptibility to, 2 NA CLINVAR Detail
0.174 Breast Cancer, Familial NA CLINVAR Detail
0.391 Hereditary Breast and Ovarian Cancer Syndrome NA CLINVAR Detail
0.128 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) AND Breast-ovarian cancer, familial, susce... ClinVar Detail
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) AND not provided ClinVar Detail
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) AND Hereditary cancer-predisposing syndrom... ClinVar Detail
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) AND Hereditary breast ovarian cancer syndr... ClinVar Detail
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) AND Malignant tumor of breast ClinVar Detail
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) AND Familial cancer of breast ClinVar Detail
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) AND BRCA2-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET 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
rs276174813 dbSNP
Genome
hg19
Position
chr13:32,907,411-32,907,415
Variant Type
snv
Reference Allele
CTTAT
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))
rs276174813
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))
16760
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