chr13:32338202:GT> Detail (hg38) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,912,339-32,912,340 
hg38 chr13:32,338,202-32,338,203

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.3847_3848delGT NP_000050.2:p.Val1283LysfsTer2
Ensemble ENST00000380152.8:c.3847_3848delGT ENST00000380152.8:p.Val1283LysfsTer2
ENST00000530893.7:c.3478_3479delGT ENST00000530893.7:p.Val1160LysfsTer2
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 tgv222289968 TogoVar
COSMIC COSM4971251 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-04-22 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 2 germline not provided unknown Detail
Pathogenic 2024-01-30 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2022-12-05 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2017-02-23 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline Detail
Pathogenic 2024-02-06 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-01-06 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary germline Detail
Pathogenic 2020-09-01 no assertion criteria provided rhabdomyosarcoma germline Detail
Pathogenic no assertion criteria provided unknown Detail
not provided no assertion provided hereditary breast ovarian cancer syndrome,Fanconi anemia complementation group D1 unknown Detail
not provided no assertion provided hereditary breast ovarian cancer syndrome,Fanconi anemia complementation group D1 unknown Detail
Pathogenic 2021-09-12 no assertion criteria provided breast carcinoma germline Detail
Pathogenic 2022-03-30 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Wilms tumor 1,Familial cancer of breast,Fanconi anemia complementation group D1,Glioma susceptibility 3,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2022-03-30 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Wilms tumor 1,Familial cancer of breast,Fanconi anemia complementation group D1,Glioma susceptibility 3,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2022-03-30 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Wilms tumor 1,Familial cancer of breast,Fanconi anemia complementation group D1,Glioma susceptibility 3,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2022-03-30 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Wilms tumor 1,Familial cancer of breast,Fanconi anemia complementation group D1,Glioma susceptibility 3,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2022-03-30 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Wilms tumor 1,Familial cancer of breast,Fanconi anemia complementation group D1,Glioma susceptibility 3,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2022-03-30 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Wilms tumor 1,Familial cancer of breast,Fanconi anemia complementation group D1,Glioma susceptibility 3,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2022-03-30 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Wilms tumor 1,Familial cancer of breast,Fanconi anemia complementation group D1,Glioma susceptibility 3,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2022-03-30 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Wilms tumor 1,Familial cancer of breast,Fanconi anemia complementation group D1,Glioma susceptibility 3,Pancreatic cancer, susceptibility to, 2 unknown Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic 2024-02-21 criteria provided, single submitter BRCA2-related disorder germline 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.3847_3848del (p.Val1283fs) AND Breast-ovarian cancer, familial, susceptibility ... ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND Familial cancer of breast ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND not provided ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND Breast and/or ovarian cancer ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND Neoplasm of ovary ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND Rhabdomyosarcoma ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND Malignant tumor of breast ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND Breast carcinoma ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND Gastric cancer ClinVar Detail
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND BRCA2-related disorder 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
rs80359405 dbSNP
Genome
hg38
Position
chr13:32,338,202-32,338,203
Variant Type
snv
Reference Allele
GT
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
6898
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
94102
Allele Counts in All Race (ExAC)
11
Heterozygous Counts in All Race (ExAC)
11
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.1689443369960255E-4
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