chr13:32340000:C>G Detail (hg38) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,914,137-32,914,137 View the variant detail on this assembly version.
hg38 chr13:32,340,000-32,340,000

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.5645C>G NP_000050.2:p.Ser1882Ter
Ensemble ENST00000380152.8:c.5645C>G ENST00000380152.8:p.Ser1882Ter
ENST00000530893.7:c.5276C>G ENST00000530893.7:p.Ser1759Ter
Summary

MGeND

Clinical significance Pathogenic
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
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000069
(TMGS000141) 		Kenjiro Kosaki
 Keio University
Okayama University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2005-02-01 no assertion criteria provided Wilms tumor 1 germline Detail
risk factor 2005-02-01 no assertion criteria provided Glioma susceptibility 3 germline Detail
Pathogenic 2005-02-01 no assertion criteria provided medulloblastoma germline Detail
Pathogenic 2016-09-08 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 2 germline Detail
Pathogenic 2023-01-31 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2022-08-05 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2019-12-18 criteria provided, single submitter not provided germline 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
0.120 Glioma susceptibility 3 NA CLINVAR Detail
0.241 medulloblastoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) AND Wilms tumor 1 ClinVar Detail
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) AND Glioma susceptibility 3 ClinVar Detail
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) AND Medulloblastoma ClinVar Detail
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) AND not provided ClinVar Detail
NA DisGeNET Detail
NA DisGeNET 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
rs80358785 dbSNP
Genome
hg38
Position
chr13:32,340,000-32,340,000
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser