chr13:32914137:C>A Detail (hg19) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,914,137-32,914,137
hg38 chr13:32,340,000-32,340,000 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.5645C>A NP_000050.2:p.Ser1882Ter
Ensemble ENST00000380152.8:c.5645C>A ENST00000380152.8:p.Ser1882Ter
ENST00000530893.7:c.5276C>A ENST00000530893.7:p.Ser1759Ter
Summary

MGeND

Clinical significance Pathogenic Uncertain significance
Variant entry 24
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
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 600185 OMIM
HGNC 1101 HGNC
Ensembl ENSG00000139618 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM946826 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2019/08/29 breast, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2019/08/29 hereditary breast and ovarian cancer syndrome germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Pathogenic 2021/03/19 control germline MGS000047
(TMGS000111) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic 2021/03/19 breast germline MGS000048
(TMGS000112) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic 2021/03/19 prostate germline MGS000049
(TMGS000113) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic 2021/03/19 Colorectal germline MGS000050
(TMGS000114) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic 2021/03/19 pancreatic germline MGS000051
(TMGS000115) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Uncertain significance other germline MGS000067
(TMGS000139) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic 2020/04/20 body of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 stomach, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 head of pancreas not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
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 not provided Detail
Pathogenic 2023-03-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2024-01-16 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-01-28 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2015-11-01 criteria provided, single submitter Breast neoplasm germline Detail
Pathogenic 2023-10-16 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Pathogenic 2017-03-17 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary germline Detail
Pathogenic 2019-03-26 criteria provided, single submitter not specified germline Detail
Pathogenic 2020-04-15 no assertion criteria provided Malignant tumor of prostate,Metastatic Prostate Small Cell Carcinoma germline Detail
Pathogenic 2020-04-15 no assertion criteria provided Malignant tumor of prostate,Metastatic Prostate Small Cell Carcinoma germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter breast carcinoma unknown Detail
Pathogenic 2022-04-08 criteria provided, single submitter Glioma susceptibility 3,medulloblastoma,Malignant tumor of prostate,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2022-04-08 criteria provided, single submitter Glioma susceptibility 3,medulloblastoma,Malignant tumor of prostate,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2022-04-08 criteria provided, single submitter Glioma susceptibility 3,medulloblastoma,Malignant tumor of prostate,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2022-04-08 criteria provided, single submitter Glioma susceptibility 3,medulloblastoma,Malignant tumor of prostate,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2022-04-08 criteria provided, single submitter Glioma susceptibility 3,medulloblastoma,Malignant tumor of prostate,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2022-04-08 criteria provided, single submitter Glioma susceptibility 3,medulloblastoma,Malignant tumor of prostate,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2022-04-08 criteria provided, single submitter Glioma susceptibility 3,medulloblastoma,Malignant tumor of prostate,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2022-04-08 criteria provided, single submitter Glioma susceptibility 3,medulloblastoma,Malignant tumor of prostate,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
not provided no assertion provided BRCA2-related disorder unknown 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
0.120 Glioma susceptibility 3 NA CLINVAR Detail
0.241 medulloblastoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND not provided ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND Breast neoplasm ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND Familial cancer of breast ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND Breast and/or ovarian cancer ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND Neoplasm of ovary ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND not specified ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND Breast carcinoma ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND Gastric cancer ClinVar Detail
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) AND BRCA2-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET 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
rs80358785 dbSNP
Genome
hg19
Position
chr13:32,914,137-32,914,137
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8628
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.159017153453871E-4
Chromosome Counts in All Race (ExAC)
120628
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)
2.4869847796531487E-5
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