chr13:32339244:C>A Detail (hg38) (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	chr13:32,913,381-32,913,381 View the variant detail on this assembly version.
hg38	chr13:32,339,244-32,339,244

HGVS

BRCA2

Type	Transcript	Protein
RefSeq	NM_000059.3:c.4889C>A	NP_000050.2:p.Ser1630Ter
Ensemble	ENST00000380152.8:c.4889C>A	ENST00000380152.8:p.Ser1630Ter
	ENST00000530893.7:c.4520C>A	ENST00000530893.7:p.Ser1507Ter
	ENST00000544455.6:c.4889C>A	ENST00000544455.6:p.Ser1630Ter
	ENST00000700202.2:c.4889C>A	ENST00000700202.2:p.Ser1630Ter
	ENST00000713678.1:c.4889C>A	ENST00000713678.1:p.Ser1630Ter
	ENST00000713680.1:c.4889C>A	ENST00000713680.1:p.Ser1630Ter

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2016-10-18	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 2	germline	Detail
Pathogenic	2022-09-13	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2023-05-16	criteria provided, single submitter	Familial cancer of breast	unknown	Detail
Pathogenic	2023-08-03	criteria provided, single submitter	not provided	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
0.128	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter) AND Familial cancer of breast	ClinVar	Detail
NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter) AND not provided	ClinVar	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: rs80358711 dbSNP
Genome: hg38
Position: chr13:32,339,244-32,339,244
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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