chr13:32340301:T> 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	chr13:32,914,438-32,914,438
hg38	chr13:32,340,301-32,340,301

HGVS

BRCA2

Type	Transcript	Protein
RefSeq	NM_000059.3:c.5946delT	NP_000050.2:p.Ser1982ArgfsTer22
Ensemble	ENST00000380152.8:c.5946delT	ENST00000380152.8:p.Ser1982ArgfsTer22
	ENST00000530893.7:c.5577delT	ENST00000530893.7:p.Ser1859ArgfsTer22
	ENST00000544455.6:c.5946delT	ENST00000544455.6:p.Ser1982ArgfsTer22
	ENST00000700202.2:c.5946delT	ENST00000700202.2:p.Ser1982ArgfsTer22
	ENST00000713678.1:c.5946delT	ENST00000713678.1:p.Ser1982ArgfsTer22
	ENST00000713680.1:c.5946delT	ENST00000713680.1:p.Ser1982ArgfsTer22

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	2023-10-10	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 2	germline not applicable not provided unknown	Detail
risk factor	2016-09-12	no assertion criteria provided	Pancreatic cancer, susceptibility to, 2	not provided	Detail
Pathogenic	2016-09-12	no assertion criteria provided	Fanconi anemia complementation group D1	not provided	Detail
Pathogenic	2024-01-31	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline unknown	Detail
Pathogenic	2017-02-23	criteria provided, single submitter	Familial cancer of breast	germline	Detail
Pathogenic	2023-03-06	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-03-01	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2017-04-28	criteria provided, single submitter	BRCA2-related disorder	germline	Detail
Pathogenic		criteria provided, single submitter	Breast neoplasm	germline	Detail
Pathogenic	2022-03-06	criteria provided, single submitter	Breast and/or ovarian cancer	germline	Detail
Pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	germline	Detail
not provided		no assertion provided	hereditary breast ovarian cancer syndrome,Fanconi anemia complementation group D1	unknown	Detail
not provided		no assertion provided	hereditary breast ovarian cancer syndrome,Fanconi anemia complementation group D1	unknown	Detail
Pathogenic	2023-02-21	no assertion criteria provided	endometrial carcinoma	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	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
0.120	Pancreatic cancer, susceptibility to, 2	NA	CLINVAR	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Breast-ovarian cancer, familial, susceptibility to, 2	ClinVar	Detail
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Pancreatic cancer, susceptibility to, 2	ClinVar	Detail
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Fanconi anemia complementation group D1	ClinVar	Detail
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Familial cancer of breast	ClinVar	Detail
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND not provided	ClinVar	Detail
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND BRCA2-related disorder	ClinVar	Detail
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Breast neoplasm	ClinVar	Detail
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Neoplasm of ovary	ClinVar	Detail
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Endometrial carcinoma	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	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: rs80359550 dbSNP
Genome: hg38
Position: chr13:32,340,301-32,340,301
Variant Type: snv
Reference Allele: T
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8650
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): 120698
Allele Counts in All Race (ExAC): 32
Heterozygous Counts in All Race (ExAC): 32
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.651245256756533E-4

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