chr13:32326614:G>A Detail (hg38) (BRCA2)

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

Information

Genome

Assembly	Position
hg19	chr13:32,900,751-32,900,751 View the variant detail on this assembly version.
hg38	chr13:32,326,614-32,326,614

HGVS

BRCA2

Type	Transcript	Protein
RefSeq	NM_000059.3:c.631+1G>A
Ensemble	ENST00000380152.8:c.631+1G>A
	ENST00000530893.7:c.262+1G>A
	ENST00000544455.6:c.631+1G>A
	ENST00000700202.2:c.631+1G>A
	ENST00000713678.1:c.631+1G>A
	ENST00000713680.1:c.631+1G>A

Summary

MGeND

Clinical significance
Variant entry
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2007-01-01	no assertion criteria provided	Fanconi anemia complementation group D1	germline	Detail
Pathogenic	2023-08-31	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic Likely pathogenic	2017-02-27	criteria provided, multiple submitters, no conflicts	Breast-ovarian cancer, familial, susceptibility to, 2	germline unknown	Detail
Pathogenic	2022-03-03	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2018-10-15	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2020-04-02	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1	germline	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
0.391	Hereditary Breast and Ovarian Cancer Syndrome	NA	CLINVAR		Detail
0.128	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.560	FANCONI ANEMIA, COMPLEMENTATION GROUP D1	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.631+1G>A AND Fanconi anemia complementation group D1	ClinVar	Detail
NM_000059.4(BRCA2):c.631+1G>A AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.631+1G>A AND Breast-ovarian cancer, familial, susceptibility to, 2	ClinVar	Detail
NM_000059.4(BRCA2):c.631+1G>A AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.631+1G>A AND not provided	ClinVar	Detail
NM_000059.4(BRCA2):c.631+1G>A AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs81002897 dbSNP
Genome: hg38
Position: chr13:32,326,614-32,326,614
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Variant (CIViC) (CIViC Variant): V211I
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1251

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