chr13:32900287:G>A Detail (hg19) (BRCA2)

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

Information

Genome

Assembly	Position
hg19	chr13:32,900,287-32,900,287
hg38	chr13:32,326,150-32,326,150 View the variant detail on this assembly version.

HGVS

BRCA2

Type	Transcript	Protein
RefSeq	NM_000059.3:c.475G>A	NP_000050.2:p.Val159Met
Ensemble	ENST00000544455.6:c.475G>A	ENST00000544455.6:p.Val159Met
	ENST00000380152.8:c.475G>A	ENST00000380152.8:p.Val159Met
	ENST00000530893.7:c.106G>A	ENST00000530893.7:p.Val36Met
	ENST00000700202.2:c.475G>A	ENST00000700202.2:p.Val159Met
	ENST00000713678.1:c.475G>A	ENST00000713678.1:p.Val159Met
	ENST00000713680.1:c.475G>A	ENST00000713680.1:p.Val159Met

Summary

MGeND

Clinical significance	Pathogenic not provided
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University
not provided		bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-08-13	criteria provided, multiple submitters, no conflicts	Breast-ovarian cancer, familial, susceptibility to, 2	germline	Detail
Pathogenic Likely pathogenic	2023-07-22	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2023-07-07	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Likely pathogenic	2023-08-08	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2021-03-04	no assertion criteria provided	Carcinoma of pancreas	germline	Detail
Likely pathogenic	2023-02-10	criteria provided, single submitter	Familial cancer of breast	unknown	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
ovarian cancer	Rucaparib	C	Predictive	Supports	Sensitivity/Response	Somatic		27908594	Detail

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

Annotation

Annotations

Descrption	Source	Links
In a phase 2 study of 206 recurrent, platinum-sensitive, high-grade ovarian cancer patients, patient...	CIViC Evidence	Detail
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) AND Breast-ovarian cancer, familial, susceptibility to, 2	ClinVar	Detail
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) AND not provided	ClinVar	Detail
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) AND Carcinoma of pancreas	ClinVar	Detail
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) 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: rs80358702 dbSNP
Genome: hg19
Position: chr13:32,900,287-32,900,287
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Variant (CIViC) (CIViC Variant): V159M
Transcript 1 (CIViC Variant): ENST00000544455.1
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1249

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