chr17:43095920:ACAC> Detail (hg38) (BRCA1)

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

Genome

Assembly	Position
hg19	chr17:41,247,937-41,247,940
hg38	chr17:43,095,920-43,095,923

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.594-1_596delGTGT	NP_009225.1:p.Ser198_Val199delinsArg
	NM_007299.3:c.594-1_596delGTGT	NP_009230.2:p.Ser198_Val199delinsArg
	NM_007300.3:c.594-1_596delGTGT	NP_009231.2:p.Ser198_Val199delinsArg
	NM_007298.3:c.594-1_596delGTGT	NP_009229.2:p.Ser198_Val199delinsArg
	NM_007297.3:c.453-1_455delGTGT	NP_009228.2:p.Ser151_Val152delinsArg
Ensemble	ENST00000352993.7:c.594-1_596delGTGT	ENST00000352993.7:p.Ser198_Val199delinsArg
	ENST00000357654.9:c.594-1_596delGTGT	ENST00000357654.9:p.Ser198_Val199delinsArg
	ENST00000461574.2:c.594-1_596delGTGT	ENST00000461574.2:p.Ser198_Val199delinsArg
	ENST00000468300.5:c.594-1_596delGTGT	ENST00000468300.5:p.Ser198_Val199delinsArg
	ENST00000470026.6:c.594-1_596delGTGT	ENST00000470026.6:p.Ser198_Val199delinsArg
	ENST00000471181.7:c.594-1_596delGTGT	ENST00000471181.7:p.Ser198_Val199delinsArg
	ENST00000473961.6:c.545-1063_545-1060delGTGT
	ENST00000476777.6:c.591-1_593delGTGT	ENST00000476777.6:p.Ser197_Val198delinsArg
	ENST00000477152.6:c.516-1_518delGTGT	ENST00000477152.6:p.Ser172_Val173delinsArg
	ENST00000478531.6:c.591-1_593delGTGT	ENST00000478531.6:p.Ser197_Val198delinsArg
	ENST00000484087.6:c.548-1063_548-1060delGTGT
	ENST00000489037.2:c.516-1_518delGTGT	ENST00000489037.2:p.Ser172_Val173delinsArg
	ENST00000491747.6:c.594-1_596delGTGT	ENST00000491747.6:p.Ser198_Val199delinsArg
	ENST00000493795.5:c.453-1_455delGTGT	ENST00000493795.5:p.Ser151_Val152delinsArg
	ENST00000493919.6:c.453-1_455delGTGT	ENST00000493919.6:p.Ser151_Val152delinsArg
	ENST00000494123.6:c.594-1_596delGTGT	ENST00000494123.6:p.Ser198_Val199delinsArg
	ENST00000497488.2:c.-218-1060_-218-1063delGTGT
	ENST00000586385.5:c.4+29259_4+29262delGTGT
	ENST00000591534.5:c.-43-21399_-43-21402delGTGT
	ENST00000591849.5:c.-99+29351_-99+29348delGTGT
	ENST00000618469.2:c.594-1_596delGTGT	ENST00000618469.2:p.Ser198_Val199delinsArg
	ENST00000634433.2:c.548-1063_548-1060delGTGT
	ENST00000644379.2:c.594-1_596delGTGT	ENST00000644379.2:p.Ser198_Val199delinsArg
	ENST00000644555.2:c.453-1_455delGTGT	ENST00000644555.2:p.Ser151_Val152delinsArg
	ENST00000700182.1:c.513-1_515delGTGT	ENST00000700182.1:p.Ser171_Val172delinsArg
	ENST00000713676.1:c.594-1_596delGTGT	ENST00000713676.1:p.Ser198_Val199delinsArg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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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
Pathogenic	2015-05-19	no assertion criteria provided	Fanconi anemia complementation group A	maternal	Detail
Pathogenic	2015-10-02	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1	germline	Detail
Pathogenic Likely pathogenic	2015-02-01	no assertion criteria provided	Fanconi anemia, complementation group S	germline inherited	Detail
Likely pathogenic	2019-03-07	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.129	FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.594_597delTGTG AND Fanconi anemia complementation group A	ClinVar	Detail
NM_007294.4(BRCA1):c.594_597delTGTG AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.594_597delTGTG AND Fanconi anemia, complementation group S	ClinVar	Detail
NM_007294.4(BRCA1):c.594_597delTGTG AND Hereditary cancer-predisposing syndrome	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: rs797045175 dbSNP
Genome: hg38
Position: chr17:43,095,920-43,095,923
Variant Type: snv
Reference Allele: ACAC
Alternative Allele: -

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