chr7:152648922:C>T Detail (hg38) (XRCC2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:152,346,007-152,346,007 View the variant detail on this assembly version. |
| hg38 | chr7:152,648,922-152,648,922 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005431.1:c.563G>A | NP_005422.1:p.Arg188His |
| Ensemble | ENST00000359321.2:c.563G>A | ENST00000359321.2:p.Arg188His |
| ENST00000698506.1:c.395G>A | ENST00000698506.1:p.Arg132His |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| 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 |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2016-08-17 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2023-07-07 | criteria provided, single submitter | Fanconi anemia complementation group U |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.016 | Malignant neoplasm of ovary | The aim of the present study was to evaluate the role of SNPs in three genes, XR... | BeFree | 23277402 | Detail |
| 0.003 | ovarian carcinoma | The aim of the present study was to evaluate the role of SNPs in three genes, XR... | BeFree | 23277402 | Detail |
| 0.007 | Malignant neoplasm of ovary | The aim of the present study was to evaluate the role of SNPs in three genes, XR... | BeFree | 23277402 | Detail |
| 0.002 | ovarian carcinoma | The aim of the present study was to evaluate the role of SNPs in three genes, XR... | BeFree | 23277402 | Detail |
| 0.002 | ovarian carcinoma | The aim of the present study was to evaluate the role of SNPs in three genes, XR... | BeFree | 23277402 | Detail |
| 0.014 | Malignant neoplasm of ovary | The aim of the present study was to evaluate the role of SNPs in three genes, XR... | BeFree | 23277402 | Detail |
| <0.001 | Non-small cell lung carcinoma | We genotyped six potentially functional single nucleotide polymorphisms (SNPs) (... | BeFree | 21647442 | Detail |
| 0.007 | Malignant neoplasm of ovary | Three of the 10 SNPs showed evidence of an association with ovarian cancer at P&... | BeFree | 19127255 | Detail |
| 0.003 | Malignant neoplasm of ovary | Three of the 10 SNPs showed evidence of an association with ovarian cancer at P&... | BeFree | 19127255 | Detail |
| 0.002 | ovarian carcinoma | Three of the 10 SNPs showed evidence of an association with ovarian cancer at P&... | BeFree | 19127255 | Detail |
| <0.001 | ovarian carcinoma | Three of the 10 SNPs showed evidence of an association with ovarian cancer at P&... | BeFree | 19127255 | Detail |
| 0.010 | breast carcinoma | Genotyping was conducted for polymorphisms in four genes involved in repair of r... | BeFree | 16214912 | Detail |
| 0.496 | Nijmegen breakage syndrome | Genotyping was conducted for polymorphisms in four genes involved in repair of r... | BeFree | 16214912 | Detail |
| 0.005 | breast carcinoma | Genotyping was conducted for polymorphisms in four genes involved in repair of r... | BeFree | 16214912 | Detail |
| 0.011 | breast carcinoma | Genotyping was conducted for polymorphisms in four genes involved in repair of r... | BeFree | 16214912 | Detail |
| 0.194 | Malignant neoplasm of breast | Genotyping was conducted for polymorphisms in four genes involved in repair of r... | BeFree | 16214912 | Detail |
| 0.085 | Malignant neoplasm of breast | Genotyping was conducted for polymorphisms in four genes involved in repair of r... | BeFree | 16214912 | Detail |
| 0.036 | Malignant neoplasm of breast | Genotyping was conducted for polymorphisms in four genes involved in repair of r... | BeFree | 16214912 | Detail |
| 0.011 | breast carcinoma | We prospectively assessed the associations of candidate polymorphisms G31479A (R... | BeFree | 14578164 | Detail |
| 0.085 | Malignant neoplasm of breast | We prospectively assessed the associations of candidate polymorphisms G31479A (R... | BeFree | 14578164 | Detail |
| 0.005 | breast carcinoma | Our results suggest that the 135G/C polymorphism of the RAD51, Thr241Met polymor... | BeFree | 25556451 | Detail |
| <0.001 | Malignant neoplasm of pharynx | We investigated the effect of XRCC2 Arg(188)His and XRCC3 Thr(241)Met polymorphi... | BeFree | 15386379 | Detail |
| 0.036 | Malignant neoplasm of breast | No significant association was observed between the XRCC2 Arg188His polymorphism... | BeFree | 24621646 | Detail |
| <0.001 | Malignant tumor of cervix | XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) single nu... | BeFree | 23539294 | Detail |
| 0.007 | Malignant neoplasm of ovary | The effect of RAD51 135 G>C and XRCC2 G>A (rs3218536) polymorphisms on ova... | BeFree | 24599673 | Detail |
| 0.002 | ovarian carcinoma | The effect of RAD51 135 G>C and XRCC2 G>A (rs3218536) polymorphisms on ova... | BeFree | 24599673 | Detail |
| 0.036 | Malignant neoplasm of breast | None of these tagging SNPs was associated with breast cancer risk, with the exce... | BeFree | 19064565 | Detail |
| 0.001 | cervix carcinoma | XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) single nu... | BeFree | 23539294 | Detail |
| <0.001 | Sporadic Breast Carcinoma | In conclusion, RAD51 G135C, XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms ma... | BeFree | 21701125 | Detail |
| 0.001 | Sporadic Breast Carcinoma | In conclusion, RAD51 G135C, XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms ma... | BeFree | 21701125 | Detail |
| 0.007 | Malignant neoplasm of ovary | The current meta-analysis indicated that the Arg188His polymorphism in the XRCC2... | BeFree | 24414483 | Detail |
| 0.011 | breast carcinoma | Instead, significant association was identified between XRCC2 Arg188His or XRCC3... | BeFree | 21701125 | Detail |
| 0.018 | Malignant neoplasm of ovary | The effect of RAD51 135 G>C and XRCC2 G>A (rs3218536) polymorphisms on ova... | BeFree | 24599673 | Detail |
| 0.005 | breast carcinoma | No significant association was observed between the XRCC2 Arg188His polymorphism... | BeFree | 24621646 | Detail |
| 0.002 | ovarian carcinoma | The current meta-analysis indicated that the Arg188His polymorphism in the XRCC2... | BeFree | 24414483 | Detail |
| 0.005 | breast carcinoma | However, when the population was stratified according to breast feeding (women t... | BeFree | 20004634 | Detail |
| 0.005 | breast carcinoma | None of these tagging SNPs was associated with breast cancer risk, with the exce... | BeFree | 19064565 | Detail |
| 0.036 | Malignant neoplasm of breast | XRCC2 Arg188His polymorphism is not directly associated with breast cancer risk:... | BeFree | 20127279 | Detail |
| <0.001 | differentiated thyroid gland carcinoma | It is recommended that Rad52 2259C>T, XRCC2 R188H and XRCC3 T241M polymorphis... | BeFree | 24377596 | Detail |
| 0.036 | Malignant neoplasm of breast | Our results suggest that the 135G/C polymorphism of the RAD51, Thr241Met polymor... | BeFree | 25556451 | Detail |
| <0.001 | Sporadic Breast Carcinoma | In conclusion, RAD51 G135C, XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms ma... | BeFree | 21701125 | Detail |
| 0.085 | Malignant neoplasm of breast | Instead, significant association was identified between XRCC2 Arg188His or XRCC3... | BeFree | 21701125 | Detail |
| 0.036 | Malignant neoplasm of breast | A potential role for the XRCC2 R188H polymorphic site in DNA-damage repair and b... | BeFree | 12023985 | Detail |
| <0.001 | Breast Cancer, Familial | These data establish seven SNPs - hPRB +331G/A, AR CAG repeat, CYP19 (TTTA)10, C... | BeFree | 16835078 | Detail |
| 0.005 | breast carcinoma | A potential role for the XRCC2 R188H polymorphic site in DNA-damage repair and b... | BeFree | 12023985 | Detail |
| 0.036 | Malignant neoplasm of breast | However, when the population was stratified according to breast feeding (women t... | BeFree | 20004634 | Detail |
| 0.001 | differentiated thyroid gland carcinoma | It is recommended that Rad52 2259C>T, XRCC2 R188H and XRCC3 T241M polymorphis... | BeFree | 24377596 | Detail |
| 0.006 | ovarian carcinoma | The effect of RAD51 135 G>C and XRCC2 G>A (rs3218536) polymorphisms on ova... | BeFree | 24599673 | Detail |
| 0.005 | breast carcinoma | XRCC2 Arg188His polymorphism is not directly associated with breast cancer risk:... | BeFree | 20127279 | Detail |
| 0.036 | Malignant neoplasm of breast | We observed that the XRCC2 R188H polymorphism modified the association of plasma... | BeFree | 14578164 | Detail |
| 0.005 | breast carcinoma | We observed that the XRCC2 R188H polymorphism modified the association of plasma... | BeFree | 14578164 | Detail |
| 0.002 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.156 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.005 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.004 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.002 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.012 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.004 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005431.2(XRCC2):c.563G>A (p.Arg188His) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_005431.2(XRCC2):c.563G>A (p.Arg188His) AND not provided | ClinVar | Detail |
| NM_005431.2(XRCC2):c.563G>A (p.Arg188His) AND Fanconi anemia complementation group U | ClinVar | Detail |
| The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... | DisGeNET | Detail |
| The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... | DisGeNET | Detail |
| The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... | DisGeNET | Detail |
| The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... | DisGeNET | Detail |
| The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... | DisGeNET | Detail |
| The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (... | DisGeNET | Detail |
| We genotyped six potentially functional single nucleotide polymorphisms (SNPs) (i.e., RAD51 -135G>... | DisGeNET | Detail |
| Three of the 10 SNPs showed evidence of an association with ovarian cancer at P< or =0.10 in a lo... | DisGeNET | Detail |
| Three of the 10 SNPs showed evidence of an association with ovarian cancer at P< or =0.10 in a lo... | DisGeNET | Detail |
| Three of the 10 SNPs showed evidence of an association with ovarian cancer at P< or =0.10 in a lo... | DisGeNET | Detail |
| Three of the 10 SNPs showed evidence of an association with ovarian cancer at P< or =0.10 in a lo... | DisGeNET | Detail |
| Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA... | DisGeNET | Detail |
| Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA... | DisGeNET | Detail |
| Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA... | DisGeNET | Detail |
| Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA... | DisGeNET | Detail |
| Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA... | DisGeNET | Detail |
| Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA... | DisGeNET | Detail |
| Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA... | DisGeNET | Detail |
| We prospectively assessed the associations of candidate polymorphisms G31479A (R188H) in XRCC2, A454... | DisGeNET | Detail |
| We prospectively assessed the associations of candidate polymorphisms G31479A (R188H) in XRCC2, A454... | DisGeNET | Detail |
| Our results suggest that the 135G/C polymorphism of the RAD51, Thr241Met polymorphism of XRCC3 and A... | DisGeNET | Detail |
| We investigated the effect of XRCC2 Arg(188)His and XRCC3 Thr(241)Met polymorphisms in cancer pronen... | DisGeNET | Detail |
| No significant association was observed between the XRCC2 Arg188His polymorphism and breast cancer s... | DisGeNET | Detail |
| XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) single nucleotide polymorphis... | DisGeNET | Detail |
| The effect of RAD51 135 G>C and XRCC2 G>A (rs3218536) polymorphisms on ovarian cancer risk amo... | DisGeNET | Detail |
| The effect of RAD51 135 G>C and XRCC2 G>A (rs3218536) polymorphisms on ovarian cancer risk amo... | DisGeNET | Detail |
| None of these tagging SNPs was associated with breast cancer risk, with the exception of XRCC2 rs321... | DisGeNET | Detail |
| XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) single nucleotide polymorphis... | DisGeNET | Detail |
| In conclusion, RAD51 G135C, XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms may be regarded as pre... | DisGeNET | Detail |
| In conclusion, RAD51 G135C, XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms may be regarded as pre... | DisGeNET | Detail |
| The current meta-analysis indicated that the Arg188His polymorphism in the XRCC2 gene might be a ris... | DisGeNET | Detail |
| Instead, significant association was identified between XRCC2 Arg188His or XRCC3 Thr241Met polymorph... | DisGeNET | Detail |
| The effect of RAD51 135 G>C and XRCC2 G>A (rs3218536) polymorphisms on ovarian cancer risk amo... | DisGeNET | Detail |
| No significant association was observed between the XRCC2 Arg188His polymorphism and breast cancer s... | DisGeNET | Detail |
| The current meta-analysis indicated that the Arg188His polymorphism in the XRCC2 gene might be a ris... | DisGeNET | Detail |
| However, when the population was stratified according to breast feeding (women that breast fed and w... | DisGeNET | Detail |
| None of these tagging SNPs was associated with breast cancer risk, with the exception of XRCC2 rs321... | DisGeNET | Detail |
| XRCC2 Arg188His polymorphism is not directly associated with breast cancer risk: evidence from 37,36... | DisGeNET | Detail |
| It is recommended that Rad52 2259C>T, XRCC2 R188H and XRCC3 T241M polymorphisms should be simulta... | DisGeNET | Detail |
| Our results suggest that the 135G/C polymorphism of the RAD51, Thr241Met polymorphism of XRCC3 and A... | DisGeNET | Detail |
| In conclusion, RAD51 G135C, XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms may be regarded as pre... | DisGeNET | Detail |
| Instead, significant association was identified between XRCC2 Arg188His or XRCC3 Thr241Met polymorph... | DisGeNET | Detail |
| A potential role for the XRCC2 R188H polymorphic site in DNA-damage repair and breast cancer. | DisGeNET | Detail |
| These data establish seven SNPs - hPRB +331G/A, AR CAG repeat, CYP19 (TTTA)10, CYP1A1 MspI, VDR FOK1... | DisGeNET | Detail |
| A potential role for the XRCC2 R188H polymorphic site in DNA-damage repair and breast cancer. | DisGeNET | Detail |
| However, when the population was stratified according to breast feeding (women that breast fed and w... | DisGeNET | Detail |
| It is recommended that Rad52 2259C>T, XRCC2 R188H and XRCC3 T241M polymorphisms should be simulta... | DisGeNET | Detail |
| The effect of RAD51 135 G>C and XRCC2 G>A (rs3218536) polymorphisms on ovarian cancer risk amo... | DisGeNET | Detail |
| XRCC2 Arg188His polymorphism is not directly associated with breast cancer risk: evidence from 37,36... | DisGeNET | Detail |
| We observed that the XRCC2 R188H polymorphism modified the association of plasma alpha-carotene leve... | DisGeNET | Detail |
| We observed that the XRCC2 R188H polymorphism modified the association of plasma alpha-carotene leve... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | 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
- rs3218536 dbSNP
- Genome
- hg38
- Position
- chr7:152,648,922-152,648,922
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 4
- East Asian Heterozygous Counts (ExAC)
- 4
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 4.6221400508435407E-4
- Chromosome Counts in All Race (ExAC)
- 121390
- Allele Counts in All Race (ExAC)
- 7955
- Heterozygous Counts in All Race (ExAC)
- 7255
- Homozygous Counts in All Race (ExAC)
- 350
- Allele Frequency in All Race (ExAC)
- 0.06553258093747426
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