chr13:32913974:AAATT> 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	chr13:32,913,974-32,913,978
hg38	chr13:32,339,837-32,339,841

HGVS

BRCA2

Type	Transcript	Protein
RefSeq	NM_000059.3:c.5482_5486delAAATT	NP_000050.2:p.Lys1828ValfsTer4
Ensemble	ENST00000544455.6:c.5482_5486delAAATT	ENST00000544455.6:p.Lys1828ValfsTer4
	ENST00000380152.8:c.5482_5486delAAATT	ENST00000380152.8:p.Lys1828ValfsTer4
	ENST00000530893.7:c.5113_5117delAAATT	ENST00000530893.7:p.Lys1705ValfsTer4
	ENST00000700202.2:c.5482_5486delAAATT	ENST00000700202.2:p.Lys1828ValfsTer4
	ENST00000713678.1:c.5482_5486delAAATT	ENST00000713678.1:p.Lys1828ValfsTer4
	ENST00000713680.1:c.5482_5486delAAATT	ENST00000713680.1:p.Lys1828ValfsTer4

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	tgv48213249	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2018/01/13	breast, unspecified	germline	MGS000028 (TMGS000049)	Yukihide Momozawa	RIKEN	30287823
Pathogenic	2021/03/19	control	germline	MGS000047 (TMGS000111)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo
Pathogenic	2021/03/19	breast	germline	MGS000048 (TMGS000112)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo
Pathogenic	2021/03/19	pancreatic	germline	MGS000051 (TMGS000115)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-09-26	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2016-09-08	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 2	germline	Detail
Pathogenic	2023-04-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic		no assertion criteria provided	not provided	unknown	Detail
Pathogenic	2021-07-01	no assertion criteria provided	Gastric cancer	germline	Detail
Pathogenic	2022-01-04	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

Annotation

Annotations

Descrption	Source	Links
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs) AND Breast-ovarian cancer, familial, susceptibility ...	ClinVar	Detail
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs) AND not provided	ClinVar	Detail
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs) AND Gastric cancer	ClinVar	Detail
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs) AND Familial cancer of breast	ClinVar	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: rs80359516 dbSNP
Genome: hg19
Position: chr13:32,913,974-32,913,978
Variant Type: snv
Reference Allele: AAATT
Alternative Allele: -

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