chr13:32906729:A>C Detail (hg19) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,906,729-32,906,729
hg38 chr13:32,332,592-32,332,592 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.1114A>C NP_000050.2:p.Asn372His
Ensemble ENST00000380152.8:c.1114A>C ENST00000380152.8:p.Asn372His
ENST00000530893.7:c.745A>C ENST00000530893.7:p.Asn249His
Summary

MGeND

Clinical significance Benign
Variant entry 3,612
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.219
ToMMo:0.216
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.273

Prediction

ClinVar

Clinical Significance Benign
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 tgv48209789 TogoVar
COSMIC COSM3753646 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign 2020/04/20 colon, unspecified not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
Benign 2020/04/20 cervical part of oesophagus not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 upper third of oesophagus not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 middle third of oesophagus not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 lower third of oesophagus not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 oesophagus, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 fundus of stomach not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 body of stomach not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 pyloric antrum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 stomach, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 duodenum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 jejunum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 ileum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 small intestine, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 caecum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 appendix not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 ascending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 transverse colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 descending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 sigmoid colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 malignant neoplasm of rectosigmoid junction not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 malignant neoplasm of rectum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 anal canal not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 liver cell carcinoma not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 intrahepatic bile duct carcinoma not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 malignant neoplasm of gallbladder not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 extrahepatic bile duct not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 ampulla of vater not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 head of pancreas not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 body of pancreas not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 tail of pancreas not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 ill-defined sites within the digestive system not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 cervical part of oesophagus not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 abdominal part of oesophagus not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 upper third of oesophagus not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 middle third of oesophagus not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 lower third of oesophagus not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 oesophagus, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 fundus of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 body of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 pyloric antrum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 stomach, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 duodenum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 jejunum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 ileum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 small intestine, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 caecum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 appendix not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 transverse colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 overlapping lesion of colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 colon, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 malignant neoplasm of rectosigmoid junction not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 malignant neoplasm of rectum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 anal canal not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 liver cell carcinoma not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 intrahepatic bile duct carcinoma not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 malignant neoplasm of gallbladder not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 extrahepatic bile duct not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 ampulla of vater not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 head of pancreas not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 body of pancreas not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 tail of pancreas not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2020/04/20 ill-defined sites within the digestive system not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 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
Benign 2015-01-12 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 2 germline unknown Detail
Benign 2023-11-29 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Benign 2017-11-01 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign 2020-01-17 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2015-07-20 no assertion criteria provided Breast ductal adenocarcinoma germline Detail
Benign 2017-04-27 criteria provided, single submitter Fanconi anemia complementation group D1 germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Benign 2017-02-23 criteria provided, single submitter Familial cancer of breast germline Detail
Benign 2019-04-18 criteria provided, single submitter breast carcinoma germline Detail
Benign 2022-04-29 criteria provided, single submitter Fanconi anemia complementation group D1,Pancreatic cancer, susceptibility to, 2,Malignant tumor of prostate,Wilms tumor 1,medulloblastoma,Glioma susceptibility 3,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2 unknown Detail
Benign 2022-04-29 criteria provided, single submitter Fanconi anemia complementation group D1,Pancreatic cancer, susceptibility to, 2,Malignant tumor of prostate,Wilms tumor 1,medulloblastoma,Glioma susceptibility 3,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2 unknown Detail
Benign 2022-04-29 criteria provided, single submitter Fanconi anemia complementation group D1,Pancreatic cancer, susceptibility to, 2,Malignant tumor of prostate,Wilms tumor 1,medulloblastoma,Glioma susceptibility 3,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2 unknown Detail
Benign 2022-04-29 criteria provided, single submitter Fanconi anemia complementation group D1,Pancreatic cancer, susceptibility to, 2,Malignant tumor of prostate,Wilms tumor 1,medulloblastoma,Glioma susceptibility 3,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2 unknown Detail
Benign 2022-04-29 criteria provided, single submitter Fanconi anemia complementation group D1,Pancreatic cancer, susceptibility to, 2,Malignant tumor of prostate,Wilms tumor 1,medulloblastoma,Glioma susceptibility 3,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2 unknown Detail
Benign 2022-04-29 criteria provided, single submitter Fanconi anemia complementation group D1,Pancreatic cancer, susceptibility to, 2,Malignant tumor of prostate,Wilms tumor 1,medulloblastoma,Glioma susceptibility 3,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2 unknown Detail
Benign 2022-04-29 criteria provided, single submitter Fanconi anemia complementation group D1,Pancreatic cancer, susceptibility to, 2,Malignant tumor of prostate,Wilms tumor 1,medulloblastoma,Glioma susceptibility 3,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2 unknown Detail
Benign 2022-04-29 criteria provided, single submitter Fanconi anemia complementation group D1,Pancreatic cancer, susceptibility to, 2,Malignant tumor of prostate,Wilms tumor 1,medulloblastoma,Glioma susceptibility 3,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.230 Squamous cell carcinoma of esophagus We used SSCP and DNA sequencing to assess and compare frequencies of R72P (TP53)... BeFree 12670525 Detail
0.002 breast carcinoma In conclusion, the genetic variants evaluated are unlikely to have a substantial... BeFree 16485136 Detail
0.003 Lymphoma, Follicular Association of follicular lymphoma risk with BRCA2 N372H polymorphism in Slovak ... BeFree 21476145 Detail
0.003 Lymphoma, Follicular We have genotyped polymorphisms in the RAG1 (K820R), LIG4 (T9I), BRCA2 (N372H), ... BeFree 21476145 Detail
0.005 oligospermia The common variant N372H in BRCA2 gene may be associated with idiopathic male in... BeFree 16257105 Detail
0.480 Malignant neoplasm of breast Considering the relevant role of BRCA2 in MBC, we investigated whether the BRCA2... BeFree 17767707 Detail
0.018 Carcinoma of male breast Association between the BRCA2 N372H variant and male breast cancer risk: a popul... BeFree 17767707 Detail
0.080 breast carcinoma Polymorphic coding and noncoding variants were transmitted in each family's rela... BeFree 20352487 Detail
0.011 breast carcinoma In conclusion, the genetic variants evaluated are unlikely to have a substantial... BeFree 16485136 Detail
0.003 Lymphoma, Follicular We have genotyped polymorphisms in the RAG1 (K820R), LIG4 (T9I), BRCA2 (N372H), ... BeFree 21476145 Detail
0.280 Malignant neoplasm of ovary We have examined whether BRCA2 N372H or common amino acid-changing polymorphisms... BeFree 14555511 Detail
0.280 Malignant neoplasm of ovary Moreover, stratified analyses by the cancer type and source of control observed ... BeFree 25348552 Detail
0.480 Malignant neoplasm of breast Polymorphic coding and noncoding variants were transmitted in each family's rela... BeFree 20352487 Detail
0.360 Malignant neoplasm of breast Polymorphic coding and noncoding variants were transmitted in each family's rela... BeFree 20352487 Detail
0.003 male infertility The common variant N372H in BRCA2 gene may be associated with idiopathic male in... BeFree 16257105 Detail
0.080 breast carcinoma Polymorphic coding and noncoding variants were transmitted in each family's rela... BeFree 20352487 Detail
0.080 ovarian carcinoma Moreover, stratified analyses by the cancer type and source of control observed ... BeFree 25348552 Detail
0.085 Malignant neoplasm of breast In conclusion, the genetic variants evaluated are unlikely to have a substantial... BeFree 16485136 Detail
0.080 breast carcinoma BRCA2 N372H polymorphism and breast cancer susceptibility: a meta-analysis invol... BeFree 20135345 Detail
0.080 breast carcinoma To explore the possible association between the common single nucleotide polymor... BeFree 16257105 Detail
0.005 azoospermia The common variant N372H in BRCA2 gene may be associated with idiopathic male in... BeFree 16257105 Detail
0.080 ovarian carcinoma We have examined whether BRCA2 N372H or common amino acid-changing polymorphisms... BeFree 14555511 Detail
0.480 Malignant neoplasm of breast BRCA2 N372H polymorphism and breast cancer susceptibility: a meta-analysis invol... BeFree 20135345 Detail
0.480 Malignant neoplasm of breast To explore the possible association between the common single nucleotide polymor... BeFree 16257105 Detail
0.080 breast carcinoma In conclusion, the genetic variants evaluated are unlikely to have a substantial... BeFree 16485136 Detail
0.003 Lymphoma, Follicular We have genotyped polymorphisms in the RAG1 (K820R), LIG4 (T9I), BRCA2 (N372H), ... BeFree 21476145 Detail
0.020 Malignant neoplasm of male breast Association between the BRCA2 N372H variant and male breast cancer risk: a popul... BeFree 17767707 Detail
0.015 Epithelial ovarian cancer BRCA2 N372H Polymorphism and Risk of Epithelial Ovarian Cancer: An Updated Meta-... BeFree 26496279 Detail
0.480 Malignant neoplasm of breast In conclusion, the genetic variants evaluated are unlikely to have a substantial... BeFree 16485136 Detail
0.080 breast carcinoma Considering the relevant role of BRCA2 in MBC, we investigated whether the BRCA2... BeFree 17767707 Detail
0.009 Malignant neoplasm of breast In conclusion, the genetic variants evaluated are unlikely to have a substantial... BeFree 16485136 Detail
0.480 Malignant neoplasm of breast Nonetheless, published data were consistent with associations between: (a) the O... BeFree 12496039 Detail
0.098 Malignant neoplasm of breast Nonetheless, published data were consistent with associations between: (a) the O... BeFree 12496039 Detail
0.080 breast carcinoma Nonetheless, published data were consistent with associations between: (a) the O... BeFree 12496039 Detail
0.005 breast carcinoma Nonetheless, published data were consistent with associations between: (a) the O... BeFree 12496039 Detail
0.018 breast carcinoma Nonetheless, published data were consistent with associations between: (a) the O... BeFree 12496039 Detail
0.026 Malignant neoplasm of breast Nonetheless, published data were consistent with associations between: (a) the O... BeFree 12496039 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.008 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.080 breast carcinoma Previous association studies of breast cancer and BRCA2 N372H and functional obs... BeFree 15113441 Detail
0.480 Malignant neoplasm of breast Previous association studies of breast cancer and BRCA2 N372H and functional obs... BeFree 15113441 Detail
0.005 breast carcinoma Previous association studies of breast cancer and BRCA2 N372H and functional obs... BeFree 15113441 Detail
0.019 Malignant neoplasm of breast Previous association studies of breast cancer and BRCA2 N372H and functional obs... BeFree 15113441 Detail
<0.001 Small cell carcinoma of esophagus We retrospectively examined whether there was an association between the selecte... BeFree 25374063 Detail
<0.001 Small cell carcinoma of esophagus We retrospectively examined whether there was an association between the selecte... BeFree 25374063 Detail
<0.001 Small cell carcinoma of esophagus We retrospectively examined whether there was an association between the selecte... BeFree 25374063 Detail
<0.001 Small cell carcinoma of esophagus We retrospectively examined whether there was an association between the selecte... BeFree 25374063 Detail
<0.001 Small cell carcinoma of esophagus We retrospectively examined whether there was an association between the selecte... BeFree 25374063 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND Breast-ovarian cancer, familial, susceptibility to, 2 ClinVar Detail
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND not provided ClinVar Detail
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND not specified ClinVar Detail
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND Breast ductal adenocarcinoma ClinVar Detail
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND Fanconi anemia complementation group D1 ClinVar Detail
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND Familial cancer of breast ClinVar Detail
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND Breast carcinoma ClinVar Detail
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) AND multiple conditions ClinVar Detail
We used SSCP and DNA sequencing to assess and compare frequencies of R72P (TP53) and 5'UTR203G&gt;A,... DisGeNET Detail
In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association... DisGeNET Detail
Association of follicular lymphoma risk with BRCA2 N372H polymorphism in Slovak population. DisGeNET Detail
We have genotyped polymorphisms in the RAG1 (K820R), LIG4 (T9I), BRCA2 (N372H), and WRN (V114I) gene... DisGeNET Detail
The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoos... DisGeNET Detail
Considering the relevant role of BRCA2 in MBC, we investigated whether the BRCA2 N372H variant, repr... DisGeNET Detail
Association between the BRCA2 N372H variant and male breast cancer risk: a population-based case-con... DisGeNET Detail
Polymorphic coding and noncoding variants were transmitted in each family's relatives with a frequen... DisGeNET Detail
In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association... DisGeNET Detail
We have genotyped polymorphisms in the RAG1 (K820R), LIG4 (T9I), BRCA2 (N372H), and WRN (V114I) gene... DisGeNET Detail
We have examined whether BRCA2 N372H or common amino acid-changing polymorphisms in BRCA1 predispose... DisGeNET Detail
Moreover, stratified analyses by the cancer type and source of control observed significantly increa... DisGeNET Detail
Polymorphic coding and noncoding variants were transmitted in each family's relatives with a frequen... DisGeNET Detail
Polymorphic coding and noncoding variants were transmitted in each family's relatives with a frequen... DisGeNET Detail
The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoos... DisGeNET Detail
Polymorphic coding and noncoding variants were transmitted in each family's relatives with a frequen... DisGeNET Detail
Moreover, stratified analyses by the cancer type and source of control observed significantly increa... DisGeNET Detail
In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association... DisGeNET Detail
BRCA2 N372H polymorphism and breast cancer susceptibility: a meta-analysis involving 44,903 subjects... DisGeNET Detail
To explore the possible association between the common single nucleotide polymorphism N372H in human... DisGeNET Detail
The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoos... DisGeNET Detail
We have examined whether BRCA2 N372H or common amino acid-changing polymorphisms in BRCA1 predispose... DisGeNET Detail
BRCA2 N372H polymorphism and breast cancer susceptibility: a meta-analysis involving 44,903 subjects... DisGeNET Detail
To explore the possible association between the common single nucleotide polymorphism N372H in human... DisGeNET Detail
In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association... DisGeNET Detail
We have genotyped polymorphisms in the RAG1 (K820R), LIG4 (T9I), BRCA2 (N372H), and WRN (V114I) gene... DisGeNET Detail
Association between the BRCA2 N372H variant and male breast cancer risk: a population-based case-con... DisGeNET Detail
BRCA2 N372H Polymorphism and Risk of Epithelial Ovarian Cancer: An Updated Meta-Analysis With 2344 C... DisGeNET Detail
In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association... DisGeNET Detail
Considering the relevant role of BRCA2 in MBC, we investigated whether the BRCA2 N372H variant, repr... DisGeNET Detail
In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association... DisGeNET Detail
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant an... DisGeNET Detail
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant an... DisGeNET Detail
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant an... DisGeNET Detail
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant an... DisGeNET Detail
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant an... DisGeNET Detail
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant an... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D... DisGeNET Detail
Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D... DisGeNET Detail
Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D... DisGeNET Detail
Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D... DisGeNET Detail
We retrospectively examined whether there was an association between the selected six single nucleot... DisGeNET Detail
We retrospectively examined whether there was an association between the selected six single nucleot... DisGeNET Detail
We retrospectively examined whether there was an association between the selected six single nucleot... DisGeNET Detail
We retrospectively examined whether there was an association between the selected six single nucleot... DisGeNET Detail
We retrospectively examined whether there was an association between the selected six single nucleot... 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
rs144848 dbSNP
Genome
hg19
Position
chr13:32,906,729-32,906,729
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1204
Mean of sample read depth (HGVD)
90.61
Standard deviation of sample read depth (HGVD)
57.60
Number of reference allele (HGVD)
1880
Number of alternative allele (HGVD)
528
Allele Frequency (HGVD)
0.21926910299003322
Gene Symbol (HGVD)
BRCA2
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))
rs144848
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2162
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3623
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
2359
East Asian Heterozygous Counts (ExAC)
1665
East Asian Homozygous Counts (ExAC)
347
East Asian Allele Frequency (ExAC)
0.2728429331482767
Chromosome Counts in All Race (ExAC)
120768
Allele Counts in All Race (ExAC)
33565
Heterozygous Counts in All Race (ExAC)
23687
Homozygous Counts in All Race (ExAC)
4939
Allele Frequency in All Race (ExAC)
0.27792958399576045
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