chr13:32912963:CTGA> 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	chr13:32,912,963-32,912,966
hg38	chr13:32,338,826-32,338,829

HGVS

BRCA2

Type	Transcript	Protein
RefSeq	NM_000059.3:c.4471_4474delCTGA	NP_000050.2:p.Leu1491LysfsTer12
Ensemble	ENST00000380152.8:c.4471_4474delCTGA	ENST00000380152.8:p.Leu1491LysfsTer12
	ENST00000544455.6:c.4471_4474delCTGA	ENST00000544455.6:p.Leu1491LysfsTer12
	ENST00000700202.2:c.4471_4474delCTGA	ENST00000700202.2:p.Leu1491LysfsTer12
	ENST00000713678.1:c.4471_4474delCTGA	ENST00000713678.1:p.Leu1491LysfsTer12
	ENST00000713680.1:c.4471_4474delCTGA	ENST00000713680.1:p.Leu1491LysfsTer12
	ENST00000530893.7:c.4102_4105delCTGA	ENST00000530893.7:p.Leu1368LysfsTer12

Summary

MGeND

Clinical significance
Variant entry
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
	COSMIC	COSM6986042	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-12-14	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2016-09-08	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 2	germline unknown	Detail
Pathogenic	2022-02-14	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-11-01	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2021-08-08	no assertion criteria provided	breast carcinoma	germline	Detail
Pathogenic	2022-08-03	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
0.391	Hereditary Breast and Ovarian Cancer Syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs) AND Breast-ovarian cancer, familial, susceptibility ...	ClinVar	Detail
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs) AND not provided	ClinVar	Detail
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs) AND Breast carcinoma	ClinVar	Detail
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs) AND Familial cancer of breast	ClinVar	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: rs80359451 dbSNP
Genome: hg19
Position: chr13:32,912,963-32,912,966
Variant Type: snv
Reference Allele: CTGA
Alternative Allele: -

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