chr13:32930748:T>G Detail (hg19) (BRCA2)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr13:32,930,748-32,930,748
hg38	chr13:32,356,611-32,356,611 View the variant detail on this assembly version.

HGVS

BRCA2

Type	Transcript	Protein
RefSeq	NM_000059.3:c.7617+2T>G
Ensemble	ENST00000713680.1:c.7617+2T>G
	ENST00000713678.1:c.7617+2T>G
	ENST00000700202.2:c.7617+2T>G
	ENST00000544455.6:c.7617+2T>G
	ENST00000380152.8:c.7617+2T>G
	ENST00000530893.7:c.7248+2T>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

BRCA2

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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-11-10	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2019-06-18	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 2	germline	Detail
Pathogenic		no assertion criteria provided	not provided	germline	Detail
Pathogenic	2023-11-07	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2021-08-06	criteria provided, single submitter	Familial cancer of breast,Glioma susceptibility 3,Wilms tumor 1,Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Pancreatic cancer, susceptibility to, 2	unknown	Detail
Pathogenic	2021-08-06	criteria provided, single submitter	Familial cancer of breast,Glioma susceptibility 3,Wilms tumor 1,Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Pancreatic cancer, susceptibility to, 2	unknown	Detail
Pathogenic	2021-08-06	criteria provided, single submitter	Familial cancer of breast,Glioma susceptibility 3,Wilms tumor 1,Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Pancreatic cancer, susceptibility to, 2	unknown	Detail
Pathogenic	2021-08-06	criteria provided, single submitter	Familial cancer of breast,Glioma susceptibility 3,Wilms tumor 1,Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Pancreatic cancer, susceptibility to, 2	unknown	Detail
Pathogenic	2021-08-06	criteria provided, single submitter	Familial cancer of breast,Glioma susceptibility 3,Wilms tumor 1,Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Pancreatic cancer, susceptibility to, 2	unknown	Detail
Pathogenic	2021-08-06	criteria provided, single submitter	Familial cancer of breast,Glioma susceptibility 3,Wilms tumor 1,Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Pancreatic cancer, susceptibility to, 2	unknown	Detail
Pathogenic	2021-08-06	criteria provided, single submitter	Familial cancer of breast,Glioma susceptibility 3,Wilms tumor 1,Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Pancreatic cancer, susceptibility to, 2	unknown	Detail
Pathogenic	2021-08-06	criteria provided, single submitter	Familial cancer of breast,Glioma susceptibility 3,Wilms tumor 1,Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2,Malignant tumor of prostate,medulloblastoma,Pancreatic cancer, susceptibility to, 2	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

Annotation

Annotations

Descrption	Source	Links
NM_000059.4(BRCA2):c.7617+2T>G AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.7617+2T>G AND Breast-ovarian cancer, familial, susceptibility to, 2	ClinVar	Detail
NM_000059.4(BRCA2):c.7617+2T>G AND not provided	ClinVar	Detail
NM_000059.4(BRCA2):c.7617+2T>G AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.7617+2T>G AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.7617+2T>G AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.7617+2T>G AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.7617+2T>G AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.7617+2T>G AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.7617+2T>G AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.7617+2T>G AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.7617+2T>G AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs81002843 dbSNP
Genome: hg19
Position: chr13:32,930,748-32,930,748
Variant Type: snv
Reference Allele: T
Alternative Allele: G

Genome browser