chr13:32912091:GT> Detail (hg19) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,912,091-32,912,092
hg38 chr13:32,337,954-32,337,955 

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.3599_3600delGT NP_000050.2:p.Cys1200Ter
Ensemble ENST00000380152.8:c.3599_3600delGT ENST00000380152.8:p.Cys1200Ter
ENST00000530893.7:c.3230_3231delGT ENST00000530893.7:p.Cys1077Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 5
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
COSMIC COSM1684364 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2021/03/19 control germline MGS000047
(TMGS000111) 		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 other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-08-15 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2016-09-08 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 2 germline unknown Detail
Pathogenic 2023-10-25 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-12-22 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2020-09-01 no assertion criteria provided rhabdomyosarcoma germline Detail
Pathogenic 2020-04-02 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1 germline Detail
Pathogenic 2021-03-22 no assertion criteria provided chordoma germline Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic 2023-05-07 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.3599_3600del (p.Asp1199_Cys1200insTer) AND not provided ClinVar Detail
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) AND Breast-ovarian cancer, familial, sus... ClinVar Detail
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) AND Hereditary cancer-predisposing syndr... ClinVar Detail
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) AND Hereditary breast ovarian cancer syn... ClinVar Detail
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) AND Rhabdomyosarcoma ClinVar Detail
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) AND Breast-ovarian cancer, familial, sus... ClinVar Detail
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) AND Chordoma ClinVar Detail
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) AND Gastric cancer ClinVar Detail
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) 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
rs80359391 dbSNP
Genome
hg19
Position
chr13:32,912,091-32,912,092
Variant Type
snv
Reference Allele
GT
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.155802126675913E-4
Chromosome Counts in All Race (ExAC)
121114
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.3026735142097525E-5
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