chr13:32316486:C>T 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	chr13:32,890,623-32,890,623 View the variant detail on this assembly version.
hg38	chr13:32,316,486-32,316,486

HGVS

BRCA2

Type	Transcript	Protein
RefSeq	NM_000059.3:c.26C>T	NP_000050.2:p.Pro9Leu
Ensemble	ENST00000380152.8:c.26C>T	ENST00000380152.8:p.Pro9Leu
	ENST00000530893.7:c.-340C>T
	ENST00000544455.6:c.26C>T	ENST00000544455.6:p.Pro9Leu
	ENST00000700202.2:c.26C>T	ENST00000700202.2:p.Pro9Leu
	ENST00000713678.1:c.26C>T	ENST00000713678.1:p.Pro9Leu
	ENST00000713680.1:c.26C>T	ENST00000713680.1:p.Pro9Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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	2023-09-01	no assertion criteria provided	Breast-ovarian cancer, familial, susceptibility to, 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.480	Malignant neoplasm of breast	No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2...	BeFree	18523885	Detail
0.080	breast carcinoma	No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2...	BeFree	18523885	Detail
0.019	breast carcinoma	No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2...	BeFree	18523885	Detail
0.360	Malignant neoplasm of breast	No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2...	BeFree	18523885	Detail
0.080	breast carcinoma	No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2...	BeFree	18523885	Detail
0.090	Malignant neoplasm of breast	No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2...	BeFree	18523885	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000059.4(BRCA2):c.26C>T (p.Pro9Leu) AND Breast-ovarian cancer, familial, susceptibility to, 2	ClinVar	Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ...	DisGeNET	Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ...	DisGeNET	Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ...	DisGeNET	Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ...	DisGeNET	Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ...	DisGeNET	Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ...	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: rs80358527 dbSNP
Genome: hg38
Position: chr13:32,316,486-32,316,486
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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