chr13:32921033:G>A Detail (hg19) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,921,033-32,921,033
hg38 chr13:32,346,896-32,346,896 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.7007G>A NP_000050.2:p.Arg2336His
Ensemble ENST00000380152.8:c.7007G>A ENST00000380152.8:p.Arg2336His
ENST00000530893.7:c.6638G>A ENST00000530893.7:p.Arg2213His
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[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
COSMIC COSM5440329 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance other germline MGS000067
(TMGS000139) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-04-01 no assertion criteria provided Fanconi anemia complementation group D1 germline Detail
Pathogenic 2019-06-18 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 2 unknown germline Detail
Pathogenic 2024-01-28 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2023-01-03 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-09-14 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2017-02-23 criteria provided, single submitter Familial cancer of breast germline Detail
Pathogenic 2019-06-11 no assertion criteria provided Breast and/or ovarian cancer germline Detail
Pathogenic 2021-10-07 criteria provided, single submitter Wilms tumor 1,Familial cancer of breast,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,medulloblastoma,Malignant tumor of prostate unknown Detail
Pathogenic 2021-10-07 criteria provided, single submitter Wilms tumor 1,Familial cancer of breast,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,medulloblastoma,Malignant tumor of prostate unknown Detail
Pathogenic 2021-10-07 criteria provided, single submitter Wilms tumor 1,Familial cancer of breast,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,medulloblastoma,Malignant tumor of prostate unknown Detail
Pathogenic 2021-10-07 criteria provided, single submitter Wilms tumor 1,Familial cancer of breast,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,medulloblastoma,Malignant tumor of prostate unknown Detail
Pathogenic 2021-10-07 criteria provided, single submitter Wilms tumor 1,Familial cancer of breast,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,medulloblastoma,Malignant tumor of prostate unknown Detail
Pathogenic 2021-10-07 criteria provided, single submitter Wilms tumor 1,Familial cancer of breast,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,medulloblastoma,Malignant tumor of prostate unknown Detail
Pathogenic 2021-10-07 criteria provided, single submitter Wilms tumor 1,Familial cancer of breast,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,medulloblastoma,Malignant tumor of prostate unknown Detail
Pathogenic 2021-10-07 criteria provided, single submitter Wilms tumor 1,Familial cancer of breast,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,medulloblastoma,Malignant tumor of prostate unknown Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
ovarian cancer Rucaparib C Predictive Supports Sensitivity/Response Somatic 27908594 Detail
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
0.560 FANCONI ANEMIA, COMPLEMENTATION GROUP D1 Clinical and molecular features associated with biallelic mutations in FANCD1/BR... UNIPROT 16825431 Detail
Annotation

Annotations

DescrptionSourceLinks
In a phase 2 study of 206 recurrent, platinum-sensitive, high-grade ovarian cancer patients, patient... CIViC Evidence Detail
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) AND Fanconi anemia complementation group D1 ClinVar Detail
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) AND not provided ClinVar Detail
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) AND Familial cancer of breast ClinVar Detail
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) AND Breast and/or ovarian cancer ClinVar Detail
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 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
rs28897743 dbSNP
Genome
hg19
Position
chr13:32,921,033-32,921,033
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
R2336H
Transcript 1 (CIViC Variant)
ENST00000544455.1
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1253
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