chr13:32914938:TTAAA> Detail (hg19) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,914,938-32,914,942
hg38 chr13:32,340,801-32,340,805 

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.6446_6450delTTAAA NP_000050.2:p.Ile2149SerfsTer25
Ensemble ENST00000380152.8:c.6446_6450delTTAAA ENST00000380152.8:p.Ile2149SerfsTer25
ENST00000530893.7:c.6077_6081delTTAAA ENST00000530893.7:p.Ile2026SerfsTer25
Summary

MGeND

Clinical significance Pathogenic
Variant entry 5
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 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Pathogenic 2021/03/19 breast germline MGS000048
(TMGS000112) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic 2021/03/19 prostate germline MGS000049
(TMGS000113) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic 2021/03/19 pancreatic germline MGS000051
(TMGS000115) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-11-30 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 Detail
Pathogenic 2023-07-11 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2020-10-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2022-03-13 criteria provided, single submitter Malignant tumor of prostate,medulloblastoma,Glioma susceptibility 3,Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast,Fanconi anemia complementation group D1,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2022-03-13 criteria provided, single submitter Malignant tumor of prostate,medulloblastoma,Glioma susceptibility 3,Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast,Fanconi anemia complementation group D1,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2022-03-13 criteria provided, single submitter Malignant tumor of prostate,medulloblastoma,Glioma susceptibility 3,Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast,Fanconi anemia complementation group D1,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2022-03-13 criteria provided, single submitter Malignant tumor of prostate,medulloblastoma,Glioma susceptibility 3,Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast,Fanconi anemia complementation group D1,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2022-03-13 criteria provided, single submitter Malignant tumor of prostate,medulloblastoma,Glioma susceptibility 3,Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast,Fanconi anemia complementation group D1,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2022-03-13 criteria provided, single submitter Malignant tumor of prostate,medulloblastoma,Glioma susceptibility 3,Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast,Fanconi anemia complementation group D1,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2022-03-13 criteria provided, single submitter Malignant tumor of prostate,medulloblastoma,Glioma susceptibility 3,Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast,Fanconi anemia complementation group D1,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2022-03-13 criteria provided, single submitter Malignant tumor of prostate,medulloblastoma,Glioma susceptibility 3,Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast,Fanconi anemia complementation group D1,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2022-01-21 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
0.391 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.6446_6450del (p.Ile2149fs) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) AND Breast-ovarian cancer, familial, susceptibility ... ClinVar Detail
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) AND not provided ClinVar Detail
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) AND Familial cancer of breast ClinVar 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
rs80359593 dbSNP
Genome
hg19
Position
chr13:32,914,938-32,914,942
Variant Type
snv
Reference Allele
TTAAA
Alternative Allele
-
Genome browser