chr13:32339320:C>G Detail (hg38) (BRCA2)

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

Information

Genome

Assembly	Position
hg19	chr13:32,913,457-32,913,457 View the variant detail on this assembly version.
hg38	chr13:32,339,320-32,339,320

HGVS

BRCA2

Type	Transcript	Protein
RefSeq	NM_000059.3:c.4965C>G	NP_000050.2:p.Tyr1655Ter
Ensemble	ENST00000380152.8:c.4965C>G	ENST00000380152.8:p.Tyr1655Ter
	ENST00000530893.7:c.4596C>G	ENST00000530893.7:p.Tyr1532Ter
	ENST00000544455.6:c.4965C>G	ENST00000544455.6:p.Tyr1655Ter
	ENST00000700202.2:c.4965C>G	ENST00000700202.2:p.Tyr1655Ter
	ENST00000713678.1:c.4965C>G	ENST00000713678.1:p.Tyr1655Ter
	ENST00000713680.1:c.4965C>G	ENST00000713680.1:p.Tyr1655Ter

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

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	2016-09-08	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 2	germline unknown	Detail
Pathogenic	2022-11-02	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2023-05-24	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2015-02-02	no assertion criteria provided	Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2	germline	Detail
Pathogenic	2015-02-02	no assertion criteria provided	Fanconi anemia complementation group D1,Breast-ovarian cancer, familial, susceptibility to, 2	germline	Detail
Pathogenic	2024-01-21	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2017-04-20	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2022-02-04	criteria provided, single submitter	Fanconi anemia complementation group D1,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2	unknown	Detail
Pathogenic	2022-02-04	criteria provided, single submitter	Fanconi anemia complementation group D1,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2	unknown	Detail
Pathogenic	2022-02-04	criteria provided, single submitter	Fanconi anemia complementation group D1,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2	unknown	Detail
Pathogenic	2022-02-04	criteria provided, single submitter	Fanconi anemia complementation group D1,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2	unknown	Detail
Pathogenic	2022-02-04	criteria provided, single submitter	Fanconi anemia complementation group D1,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2	unknown	Detail
Pathogenic	2022-02-04	criteria provided, single submitter	Fanconi anemia complementation group D1,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2	unknown	Detail
Pathogenic	2022-02-04	criteria provided, single submitter	Fanconi anemia complementation group D1,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2	unknown	Detail
Pathogenic	2022-02-04	criteria provided, single submitter	Fanconi anemia complementation group D1,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Familial cancer of breast,medulloblastoma,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2	unknown	Detail
Pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	germline	Detail
Pathogenic	2020-11-11	criteria provided, single submitter	Fanconi anemia complementation group D1	paternal	Detail
Pathogenic		no assertion criteria provided		unknown	Detail
Pathogenic	2023-09-29	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
0.560	FANCONI ANEMIA, COMPLEMENTATION GROUP D1	NA	CLINVAR		Detail
0.001	Epithelial ovarian cancer	Three ovarian cancer cell lines (PEO1, PEO4, and PEO6) were derived from a BRCA2...	BeFree	19654294	Detail
0.002	Malignant neoplasm of ovary	Three ovarian cancer cell lines (PEO1, PEO4, and PEO6) were derived from a BRCA2...	BeFree	19654294	Detail
0.002	ovarian carcinoma	Three ovarian cancer cell lines (PEO1, PEO4, and PEO6) were derived from a BRCA2...	BeFree	19654294	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND not provided	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND not specified	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND Neoplasm of ovary	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND Fanconi anemia complementation group D1	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND Malignant tumor of breast	ClinVar	Detail
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) AND Familial cancer of breast	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Three ovarian cancer cell lines (PEO1, PEO4, and PEO6) were derived from a BRCA2 mutation [5193C>...	DisGeNET	Detail
Three ovarian cancer cell lines (PEO1, PEO4, and PEO6) were derived from a BRCA2 mutation [5193C>...	DisGeNET	Detail
Three ovarian cancer cell lines (PEO1, PEO4, and PEO6) were derived from a BRCA2 mutation [5193C>...	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: rs80358721 dbSNP
Genome: hg38
Position: chr13:32,339,320-32,339,320
Variant Type: snv
Reference Allele: C
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8614
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): 118848
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.414108777598277E-6

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