chr17:43093454:C>A Detail (hg38) (BRCA1)

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

Information

Genome

Assembly	Position
hg19	chr17:41,245,471-41,245,471 View the variant detail on this assembly version.
hg38	chr17:43,093,454-43,093,454

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.2077G>T	NP_009225.1:p.Asp693Tyr
	NM_007299.3:c.787+1290G>T
	NM_007300.3:c.2077G>T	NP_009231.2:p.Asp693Tyr
	NM_007298.3:c.787+1290G>T
	NM_007297.3:c.1936G>T	NP_009228.2:p.Asp646Tyr
Ensemble	ENST00000352993.7:c.670+2392G>T
	ENST00000357654.9:c.2077G>T	ENST00000357654.9:p.Asp693Tyr
	ENST00000461574.2:c.2077G>T	ENST00000461574.2:p.Asp693Tyr
	ENST00000468300.5:c.787+1290G>T
	ENST00000470026.6:c.2077G>T	ENST00000470026.6:p.Asp693Tyr
	ENST00000471181.7:c.2077G>T	ENST00000471181.7:p.Asp693Tyr
	ENST00000473961.6:c.1951G>T	ENST00000473961.6:p.Asp651Tyr
	ENST00000476777.6:c.2074G>T	ENST00000476777.6:p.Asp692Tyr
	ENST00000477152.6:c.1999G>T	ENST00000477152.6:p.Asp667Tyr
	ENST00000478531.6:c.784+1290G>T
	ENST00000484087.6:c.664+1290G>T
	ENST00000489037.2:c.1999G>T	ENST00000489037.2:p.Asp667Tyr
	ENST00000491747.6:c.787+1290G>T
	ENST00000493795.5:c.1936G>T	ENST00000493795.5:p.Asp646Tyr
	ENST00000493919.6:c.646+1290G>T
	ENST00000494123.6:c.2077G>T	ENST00000494123.6:p.Asp693Tyr
	ENST00000497488.2:c.1189G>T	ENST00000497488.2:p.Asp397Tyr
	ENST00000586385.5:c.5-29503G>T
	ENST00000591534.5:c.-43-18933G>T
	ENST00000591849.5:c.-99+31817G>T
	ENST00000618469.2:c.2077G>T	ENST00000618469.2:p.Asp693Tyr
	ENST00000634433.2:c.1954G>T	ENST00000634433.2:p.Asp652Tyr
	ENST00000644379.2:c.2077G>T	ENST00000644379.2:p.Asp693Tyr
	ENST00000644555.2:c.646+1290G>T
	ENST00000700182.1:c.706+1290G>T
	ENST00000713676.1:c.2077G>T	ENST00000713676.1:p.Asp693Tyr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Benign
Review star
Show details

Links

BRCA1

Type	Database	ID	Link
Gene	MIM	113705	OMIM
	HGNC	1100	HGNC
	Ensembl	ENSG00000012048	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
Benign	2010-12-17	no assertion criteria provided	Breast-ovarian cancer, familial, susceptibility to, 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.012	Malignant neoplasm of breast	In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso...	BeFree	17764108	Detail
0.360	Malignant neoplasm of breast	In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso...	BeFree	17764108	Detail
0.011	Malignant neoplasm of breast	In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso...	BeFree	17764108	Detail
0.080	breast carcinoma	In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso...	BeFree	17764108	Detail
0.002	breast carcinoma	In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso...	BeFree	17764108	Detail
0.001	breast carcinoma	In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso...	BeFree	17764108	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.2077G>T (p.Asp693Tyr) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu...	DisGeNET	Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu...	DisGeNET	Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu...	DisGeNET	Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu...	DisGeNET	Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu...	DisGeNET	Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu...	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: rs4986850 dbSNP
Genome: hg38
Position: chr17:43,093,454-43,093,454
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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