chr13:32950906:C>G 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	chr13:32,950,906-32,950,906
hg38	chr13:32,376,769-32,376,769 View the variant detail on this assembly version.

HGVS

BRCA2

Type	Transcript	Protein
RefSeq	NM_000059.3:c.8732C>G	NP_000050.2:p.Ala2911Gly
Ensemble	ENST00000700202.2:c.8732C>G	ENST00000700202.2:p.Ala2911Gly
	ENST00000713680.1:c.8576C>G	ENST00000713680.1:p.Ala2859Gly
	ENST00000713678.1:c.8732C>G	ENST00000713678.1:p.Ala2911Gly
	ENST00000380152.8:c.8732C>G	ENST00000380152.8:p.Ala2911Gly
	ENST00000544455.6:c.8732C>G	ENST00000544455.6:p.Ala2911Gly
	ENST00000530893.7:c.8363C>G	ENST00000530893.7:p.Ala2788Gly

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	Uncertain significance
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	2023-11-29	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Uncertain significance	2023-02-10	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2018-12-12	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2023-08-06	criteria provided, single submitter	Familial cancer of breast	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.560	FANCONI ANEMIA, COMPLEMENTATION GROUP D1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly) AND not specified	ClinVar	Detail
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly) AND Familial cancer of breast	ClinVar	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: rs80359130 dbSNP
Genome: hg19
Position: chr13:32,950,906-32,950,906
Variant Type: snv
Reference Allele: C
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8504
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): 119280
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.676727028839705E-5

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