chr13:32914320:C> Detail (hg19) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,914,320-32,914,320
hg38 chr13:32,340,183-32,340,183 

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.5828delC NP_000050.2:p.Ser1943LeufsTer20
Ensemble ENST00000530893.7:c.5459delC ENST00000530893.7:p.Ser1820LeufsTer20
ENST00000544455.6:c.5828delC ENST00000544455.6:p.Ser1943LeufsTer20
Summary

MGeND

Clinical significance
Variant entry
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-09-08 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 2 germline Detail
Pathogenic 2023-03-05 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2024-01-10 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-01-21 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2021-11-24 criteria provided, single submitter Wilms tumor 1,Glioma susceptibility 3,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1,Malignant tumor of prostate,medulloblastoma unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Wilms tumor 1,Glioma susceptibility 3,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1,Malignant tumor of prostate,medulloblastoma unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Wilms tumor 1,Glioma susceptibility 3,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1,Malignant tumor of prostate,medulloblastoma unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Wilms tumor 1,Glioma susceptibility 3,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1,Malignant tumor of prostate,medulloblastoma unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Wilms tumor 1,Glioma susceptibility 3,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1,Malignant tumor of prostate,medulloblastoma unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Wilms tumor 1,Glioma susceptibility 3,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1,Malignant tumor of prostate,medulloblastoma unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Wilms tumor 1,Glioma susceptibility 3,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1,Malignant tumor of prostate,medulloblastoma unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Wilms tumor 1,Glioma susceptibility 3,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1,Malignant tumor of prostate,medulloblastoma unknown Detail
Pathogenic 2023-03-02 criteria provided, single submitter Familial cancer of breast 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
Annotation

Annotations

DescrptionSourceLinks
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) AND Breast-ovarian cancer, familial, susceptibility to, 2 ClinVar Detail
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) AND not provided ClinVar Detail
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) AND Familial cancer of breast ClinVar 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
rs80359541 dbSNP
Genome
hg19
Position
chr13:32,914,320-32,914,320
Variant Type
snv
Reference Allele
C
Alternative Allele
-
Genome browser