chr13:32337167:GCAA> 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	chr13:32,911,304-32,911,307
hg38	chr13:32,337,167-32,337,170

HGVS

BRCA2

Type	Transcript	Protein
RefSeq	NM_000059.3:c.2812_2815delGCAA	NP_000050.2:p.Ala938ProfsTer21
Ensemble	ENST00000380152.8:c.2812_2815delGCAA	ENST00000380152.8:p.Ala938ProfsTer21
	ENST00000530893.7:c.2443_2446delGCAA	ENST00000530893.7:p.Ala815ProfsTer21
	ENST00000544455.6:c.2812_2815delGCAA	ENST00000544455.6:p.Ala938ProfsTer21
	ENST00000700202.2:c.2812_2815delGCAA	ENST00000700202.2:p.Ala938ProfsTer21
	ENST00000713678.1:c.2812_2815delGCAA	ENST00000713678.1:p.Ala938ProfsTer21
	ENST00000713680.1:c.2812_2815delGCAA	ENST00000713680.1:p.Ala938ProfsTer21

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	2014-06-11	no assertion criteria provided	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	2019-04-26	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	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.2812_2815del (p.Ala938fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.2812_2815del (p.Ala938fs) AND Breast-ovarian cancer, familial, susceptibility t...	ClinVar	Detail
NM_000059.4(BRCA2):c.2812_2815del (p.Ala938fs) AND Hereditary cancer-predisposing syndrome	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: rs80359354 dbSNP
Genome: hg38
Position: chr13:32,337,167-32,337,170
Variant Type: snv
Reference Allele: GCAA
Alternative Allele: -

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