chr13:32913140:G>C 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	chr13:32,913,140-32,913,140
hg38	chr13:32,339,003-32,339,003 View the variant detail on this assembly version.

HGVS

BRCA2

Type	Transcript	Protein
RefSeq	NM_000059.3:c.4648G>C	NP_000050.2:p.Glu1550Gln
Ensemble	ENST00000530893.7:c.4279G>C	ENST00000530893.7:p.Glu1427Gln
	ENST00000380152.8:c.4648G>C	ENST00000380152.8:p.Glu1550Gln
	ENST00000544455.6:c.4648G>C	ENST00000544455.6:p.Glu1550Gln
	ENST00000713678.1:c.4648G>C	ENST00000713678.1:p.Glu1550Gln
	ENST00000713680.1:c.4648G>C	ENST00000713680.1:p.Glu1550Gln
	ENST00000700202.2:c.4648G>C	ENST00000700202.2:p.Glu1550Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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
Uncertain significance	2023-08-28	criteria provided, multiple submitters, no conflicts	Breast-ovarian cancer, familial, susceptibility to, 2	germline	Detail
Uncertain significance	2017-04-20	criteria provided, single submitter	not specified	germline	Detail
Conflicting interpretations of pathogenicity	2024-02-20	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2021-10-28	criteria provided, single submitter	hereditary breast ovarian cancer 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
0.174	Breast Cancer, Familial	NA	CLINVAR		Detail
0.560	FANCONI ANEMIA, COMPLEMENTATION GROUP D1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000059.4(BRCA2):c.4648G>C (p.Glu1550Gln) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_000059.4(BRCA2):c.4648G>C (p.Glu1550Gln) AND not specified	ClinVar	Detail
NM_000059.4(BRCA2):c.4648G>C (p.Glu1550Gln) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.4648G>C (p.Glu1550Gln) AND Hereditary breast ovarian cancer syndrome	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: rs80358695 dbSNP
Genome: hg19
Position: chr13:32,913,140-32,913,140
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8630
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120552
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.295175525914129E-6

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