chr13:32905129:ACAG> Detail (hg19) (BRCA2)

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

Genome

Assembly	Position
hg19	chr13:32,905,129-32,905,132
hg38	chr13:32,330,992-32,330,995

HGVS

BRCA2

Type	Transcript	Protein
RefSeq	NM_000059.3:c.755_758delACAG	NP_000050.2:p.Asp252ValfsTer24
Ensemble	ENST00000530893.7:c.386_389delACAG	ENST00000530893.7:p.Asp129ValfsTer24
	ENST00000544455.6:c.755_758delACAG	ENST00000544455.6:p.Asp252ValfsTer24
	ENST00000380152.8:c.755_758delACAG	ENST00000380152.8:p.Asp252ValfsTer24
	ENST00000713680.1:c.755_758delACAG	ENST00000713680.1:p.Asp252ValfsTer24
	ENST00000700202.2:c.755_758delACAG	ENST00000700202.2:p.Asp252ValfsTer24
	ENST00000713678.1:c.755_758delACAG	ENST00000713678.1:p.Asp252ValfsTer24

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	5
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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	COSM6939059	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		breast	not provided	MGS000038 (TMGS000091)	Manabu Muto Ichiro Kinoshita	Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
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		other	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University

ClinVar

[No Data.]

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

Annotation

Annotations

Descrption	Source	Links
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: rs80359659 dbSNP
Genome: hg19
Position: chr13:32,905,129-32,905,132
Variant Type: snv
Reference Allele: ACAG
Alternative Allele: -

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