chr13:32363225:A>G Detail (hg38) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,937,362-32,937,362 View the variant detail on this assembly version.
hg38 chr13:32,363,225-32,363,225

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.8023A>G NP_000050.2:p.Ile2675Val
Ensemble ENST00000380152.8:c.8023A>G ENST00000380152.8:p.Ile2675Val
ENST00000530893.7:c.7654A>G ENST00000530893.7:p.Ile2552Val
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[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 tgv48216181 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance other germline MGS000067
(TMGS000139) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-12-26 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Likely pathogenic 2023-04-12 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-04-23 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 2 germline unknown Detail
Pathogenic Likely pathogenic 2022-02-22 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Pathogenic 2022-05-27 criteria provided, single submitter Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Fanconi anemia complementation group D1,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 unknown Detail
Pathogenic 2022-05-27 criteria provided, single submitter Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Fanconi anemia complementation group D1,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 unknown Detail
Pathogenic 2022-05-27 criteria provided, single submitter Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Fanconi anemia complementation group D1,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 unknown Detail
Pathogenic 2022-05-27 criteria provided, single submitter Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Fanconi anemia complementation group D1,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 unknown Detail
Pathogenic 2022-05-27 criteria provided, single submitter Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Fanconi anemia complementation group D1,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 unknown Detail
Pathogenic 2022-05-27 criteria provided, single submitter Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Fanconi anemia complementation group D1,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 unknown Detail
Pathogenic 2022-05-27 criteria provided, single submitter Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Fanconi anemia complementation group D1,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 unknown Detail
Pathogenic 2022-05-27 criteria provided, single submitter Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Fanconi anemia complementation group D1,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 unknown Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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.8023A>G (p.Ile2675Val) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND not provided ClinVar Detail
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND Familial cancer of breast ClinVar Detail
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) AND Gastric cancer ClinVar 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
rs397507954 dbSNP
Genome
hg38
Position
chr13:32,363,225-32,363,225
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs397507954
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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