chr13:32326563:G>A Detail (hg38) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,900,700-32,900,700 View the variant detail on this assembly version.
hg38 chr13:32,326,563-32,326,563

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.581G>A NP_000050.2:p.Trp194Ter
Ensemble ENST00000380152.8:c.581G>A ENST00000380152.8:p.Trp194Ter
ENST00000530893.7:c.212G>A ENST00000530893.7:p.Trp71Ter
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 2023-04-22 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2016-09-08 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 2 germline not provided unknown Detail
Pathogenic 2021-12-03 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2018-12-05 criteria provided, single submitter not specified germline Detail
Pathogenic 2022-05-10 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Pathogenic 2024-02-20 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2021-12-01 criteria provided, single submitter Wilms tumor 1,Breast-ovarian cancer, familial, susceptibility to, 2,medulloblastoma,Malignant tumor of prostate,Glioma susceptibility 3,Familial cancer of breast,Fanconi anemia complementation group D1,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2021-12-01 criteria provided, single submitter Wilms tumor 1,Breast-ovarian cancer, familial, susceptibility to, 2,medulloblastoma,Malignant tumor of prostate,Glioma susceptibility 3,Familial cancer of breast,Fanconi anemia complementation group D1,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2021-12-01 criteria provided, single submitter Wilms tumor 1,Breast-ovarian cancer, familial, susceptibility to, 2,medulloblastoma,Malignant tumor of prostate,Glioma susceptibility 3,Familial cancer of breast,Fanconi anemia complementation group D1,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2021-12-01 criteria provided, single submitter Wilms tumor 1,Breast-ovarian cancer, familial, susceptibility to, 2,medulloblastoma,Malignant tumor of prostate,Glioma susceptibility 3,Familial cancer of breast,Fanconi anemia complementation group D1,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2021-12-01 criteria provided, single submitter Wilms tumor 1,Breast-ovarian cancer, familial, susceptibility to, 2,medulloblastoma,Malignant tumor of prostate,Glioma susceptibility 3,Familial cancer of breast,Fanconi anemia complementation group D1,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2021-12-01 criteria provided, single submitter Wilms tumor 1,Breast-ovarian cancer, familial, susceptibility to, 2,medulloblastoma,Malignant tumor of prostate,Glioma susceptibility 3,Familial cancer of breast,Fanconi anemia complementation group D1,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2021-12-01 criteria provided, single submitter Wilms tumor 1,Breast-ovarian cancer, familial, susceptibility to, 2,medulloblastoma,Malignant tumor of prostate,Glioma susceptibility 3,Familial cancer of breast,Fanconi anemia complementation group D1,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2021-12-01 criteria provided, single submitter Wilms tumor 1,Breast-ovarian cancer, familial, susceptibility to, 2,medulloblastoma,Malignant tumor of prostate,Glioma susceptibility 3,Familial cancer of breast,Fanconi anemia complementation group D1,Pancreatic cancer, susceptibility to, 2 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
0.391 Hereditary Breast and Ovarian Cancer Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) AND Breast-ovarian cancer, familial, susceptibility to, 2 ClinVar Detail
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) AND not provided ClinVar Detail
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) AND not specified ClinVar Detail
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) AND Breast and/or ovarian cancer ClinVar Detail
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) AND multiple conditions ClinVar 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
rs80358809 dbSNP
Genome
hg38
Position
chr13:32,326,563-32,326,563
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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