chr17:43093056:G> 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	chr17:41,245,073-41,245,073
hg38	chr17:43,093,056-43,093,056

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.2475delC	NP_009225.1:p.Asp825GlufsTer21
	NM_007299.3:c.787+1688delC
	NM_007300.3:c.2475delC	NP_009231.2:p.Asp825GlufsTer21
	NM_007298.3:c.787+1688delC
	NM_007297.3:c.2334delC	NP_009228.2:p.Asp778GlufsTer21
Ensemble	ENST00000352993.7:c.671-2024delC
	ENST00000357654.9:c.2475delC	ENST00000357654.9:p.Asp825GlufsTer21
	ENST00000461574.2:c.2475delC	ENST00000461574.2:p.Asp825GlufsTer21
	ENST00000468300.5:c.787+1688delC
	ENST00000470026.6:c.2475delC	ENST00000470026.6:p.Asp825GlufsTer21
	ENST00000471181.7:c.2475delC	ENST00000471181.7:p.Asp825GlufsTer21
	ENST00000473961.6:c.2349delC	ENST00000473961.6:p.Asp783GlufsTer21
	ENST00000476777.6:c.2472delC	ENST00000476777.6:p.Asp824GlufsTer21
	ENST00000477152.6:c.2397delC	ENST00000477152.6:p.Asp799GlufsTer21
	ENST00000478531.6:c.784+1688delC
	ENST00000484087.6:c.664+1688delC
	ENST00000489037.2:c.2397delC	ENST00000489037.2:p.Asp799GlufsTer21
	ENST00000491747.6:c.787+1688delC
	ENST00000493795.5:c.2334delC	ENST00000493795.5:p.Asp778GlufsTer21
	ENST00000493919.6:c.646+1688delC
	ENST00000494123.6:c.2475delC	ENST00000494123.6:p.Asp825GlufsTer21
	ENST00000497488.2:c.1587delC	ENST00000497488.2:p.Asp529GlufsTer21
	ENST00000586385.5:c.5-29105delC
	ENST00000591534.5:c.-43-18535delC
	ENST00000591849.5:c.-99+32215delC
	ENST00000618469.2:c.2475delC	ENST00000618469.2:p.Asp825GlufsTer21
	ENST00000634433.2:c.2352delC	ENST00000634433.2:p.Asp784GlufsTer21
	ENST00000644379.2:c.2475delC	ENST00000644379.2:p.Asp825GlufsTer21
	ENST00000644555.2:c.646+1688delC
	ENST00000700182.1:c.706+1688delC
	ENST00000713676.1:c.2475delC	ENST00000713676.1:p.Asp825GlufsTer21

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	2016-04-22	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline not provided unknown	Detail
Pathogenic	2024-01-18	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline unknown	Detail
Pathogenic	2022-08-31	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-02-06	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	germline	Detail
Pathogenic	2019-03-25	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2022-02-12	criteria provided, single submitter	Pancreatic cancer, susceptibility to, 4,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S	unknown	Detail
Pathogenic	2022-02-12	criteria provided, single submitter	Pancreatic cancer, susceptibility to, 4,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S	unknown	Detail
Pathogenic	2022-02-12	criteria provided, single submitter	Pancreatic cancer, susceptibility to, 4,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S	unknown	Detail
Pathogenic	2022-02-12	criteria provided, single submitter	Pancreatic cancer, susceptibility to, 4,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S	unknown	Detail
Pathogenic	2024-02-01	criteria provided, single submitter	BRCA1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Links
0.360	Breast-ovarian cancer, familial, susceptibility to, 1	NA	CLINVAR	Detail
0.126	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.2475del (p.Asp825fs) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) AND Neoplasm of ovary	ClinVar	Detail
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) AND not specified	ClinVar	Detail
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) AND BRCA1-related disorder	ClinVar	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: rs80357970 dbSNP
Genome: hg38
Position: chr17:43,093,056-43,093,056
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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