chr17:43092042:AGTATCTTCCT> Detail (hg38) (BRCA1, LOC126862571)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:41,244,059-41,244,069
hg38	chr17:43,092,042-43,092,052

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.3479_3489delAGGAAGATACT	NP_009225.1:p.Glu1161PhefsTer3
	NM_007299.3:c.788-1020_788-1010delAGGAAGATACT
	NM_007300.3:c.3479_3489delAGGAAGATACT	NP_009231.2:p.Glu1161PhefsTer3
	NM_007298.3:c.788-1020_788-1010delAGGAAGATACT
	NM_007297.3:c.3338_3348delAGGAAGATACT	NP_009228.2:p.Glu1114PhefsTer3
Ensemble	ENST00000352993.7:c.671-1020_671-1010delAGGAAGATACT
	ENST00000357654.9:c.3479_3489delAGGAAGATACT	ENST00000357654.9:p.Glu1161PhefsTer3
	ENST00000461574.2:c.3479_3489delAGGAAGATACT	ENST00000461574.2:p.Glu1161PhefsTer3
	ENST00000468300.5:c.788-1020_788-1010delAGGAAGATACT
	ENST00000470026.6:c.3479_3489delAGGAAGATACT	ENST00000470026.6:p.Glu1161PhefsTer3
	ENST00000471181.7:c.3479_3489delAGGAAGATACT	ENST00000471181.7:p.Glu1161PhefsTer3
	ENST00000473961.6:c.3353_3363delAGGAAGATACT	ENST00000473961.6:p.Glu1119PhefsTer3
	ENST00000476777.6:c.3476_3486delAGGAAGATACT	ENST00000476777.6:p.Glu1160PhefsTer3
	ENST00000477152.6:c.3401_3411delAGGAAGATACT	ENST00000477152.6:p.Glu1135PhefsTer3
	ENST00000478531.6:c.785-1020_785-1010delAGGAAGATACT
	ENST00000484087.6:c.665-1020_665-1010delAGGAAGATACT
	ENST00000489037.2:c.3401_3411delAGGAAGATACT	ENST00000489037.2:p.Glu1135PhefsTer3
	ENST00000491747.6:c.788-1020_788-1010delAGGAAGATACT
	ENST00000493795.5:c.3338_3348delAGGAAGATACT	ENST00000493795.5:p.Glu1114PhefsTer3
	ENST00000493919.6:c.647-1020_647-1010delAGGAAGATACT
	ENST00000494123.6:c.3479_3489delAGGAAGATACT	ENST00000494123.6:p.Glu1161PhefsTer3
	ENST00000497488.2:c.2591_2601delAGGAAGATACT	ENST00000497488.2:p.Glu865PhefsTer3
	ENST00000586385.5:c.5-28101_5-28091delAGGAAGATACT
	ENST00000591534.5:c.-43-17521_-43-17531delAGGAAGATACT
	ENST00000591849.5:c.-99+33229_-99+33219delAGGAAGATACT
	ENST00000618469.2:c.3479_3489delAGGAAGATACT	ENST00000618469.2:p.Glu1161PhefsTer3
	ENST00000634433.2:c.3356_3366delAGGAAGATACT	ENST00000634433.2:p.Glu1120PhefsTer3
	ENST00000644379.2:c.3479_3489delAGGAAGATACT	ENST00000644379.2:p.Glu1161PhefsTer3
	ENST00000644555.2:c.647-1020_647-1010delAGGAAGATACT
	ENST00000700182.1:c.707-1020_707-1010delAGGAAGATACT
	ENST00000713676.1:c.3479_3489delAGGAAGATACT	ENST00000713676.1:p.Glu1161PhefsTer3

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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
Pathogenic	2016-04-22	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline unknown	Detail
Pathogenic	2024-01-29	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline unknown	Detail
Pathogenic	2023-03-16	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-03-01	criteria provided, multiple submitters, no conflicts	not provided	unknown germline	Detail
Pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	germline	Detail
Pathogenic	2019-06-11	no assertion criteria provided	Breast and/or ovarian cancer	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Links
0.360	Breast-ovarian cancer, familial, susceptibility to, 1	NA	CLINVAR	Detail
0.196	Breast Cancer, Familial	NA	CLINVAR	Detail
0.126	Neoplastic Syndromes, Hereditary	NA	CLINVAR	Detail
0.420	Hereditary Breast and Ovarian Cancer Syndrome	NA	CLINVAR	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) AND Breast-ovarian cancer, familial, susceptibility ...	ClinVar	Detail
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) AND Neoplasm of ovary	ClinVar	Detail
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) AND Breast and/or ovarian cancer	ClinVar	Detail
NA	DisGeNET	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: rs80357877 dbSNP
Genome: hg38
Position: chr17:43,092,042-43,092,052
Variant Type: snv
Reference Allele: AGTATCTTCCT
Alternative Allele: -

Genome browser