chr13:32954031:>A Detail (hg19) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,954,031-32,954,031
hg38 chr13:32,379,894-32,379,894 

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.9097_9098insA NP_000050.2:p.Thr3033AsnfsTer11
Ensemble ENST00000544455.6:c.9097_9098insA ENST00000544455.6:p.Thr3033AsnfsTer11
ENST00000380152.8:c.9097_9098insA ENST00000380152.8:p.Thr3033AsnfsTer11
Summary

MGeND

Clinical significance Pathogenic
Variant entry 7
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 tgv48217730 TogoVar
COSMIC COSM2071555 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 other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
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 unknown Detail
Pathogenic 2024-02-06 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-02-28 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-12-05 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline unknown Detail
Pathogenic 2015-11-20 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1 germline Detail
Pathogenic 2023-10-20 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Pathogenic 2023-04-28 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic no assertion criteria provided unknown Detail
Pathogenic 2021-08-08 no assertion criteria provided breast carcinoma germline Detail
Pathogenic 2020-10-22 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast germline Detail
Pathogenic 2020-10-22 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast germline Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic 2023-03-31 criteria provided, single submitter germline Detail
Pathogenic 2023-12-04 no assertion criteria provided Malignant lymphoma, large B-cell, diffuse somatic Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Breast-ovarian cancer, familial, susceptibility to, 2 ClinVar Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND not provided ClinVar Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Familial cancer of breast ClinVar Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Breast and/or ovarian cancer ClinVar Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Neoplasm of ovary ClinVar Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Malignant tumor of breast ClinVar Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Breast carcinoma ClinVar Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Gastric cancer ClinVar Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND See cases ClinVar Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Malignant lymphoma, large B-cell, diffuse ClinVar 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
rs397507419 dbSNP
Genome
hg19
Position
chr13:32,954,031-32,954,031
Variant Type
snv
Reference Allele
-
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
7960
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)
114390
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)
9.61622519451001E-5
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