chr13:32332592:A>C Detail (hg38) (BRCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:32,906,729-32,906,729 View the variant detail on this assembly version. |
| hg38 | chr13:32,332,592-32,332,592 |
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 | 1 |
| 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 | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
Centenarian |
germline
|
MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
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
| Descrption | Source | Links |
|---|---|---|
| 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>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
- hg38
- Position
- chr13:32,332,592-32,332,592
- 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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