chr17:41245092:G> Detail (hg19) (BRCA1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:41,245,092-41,245,092
hg38	chr17:43,093,075-43,093,075

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007299.3:c.787+1669delC
	NM_007297.3:c.2315delC	NP_009228.2:p.Asp774IlefsTer25
	NM_007300.3:c.2456delC	NP_009231.2:p.Asp821IlefsTer25
	NM_007294.3:c.2456delC	NP_009225.1:p.Asp821IlefsTer25
	NM_007298.3:c.787+1669delC
Ensemble	ENST00000473961.6:c.2330delC	ENST00000473961.6:p.Asp779IlefsTer25
	ENST00000468300.5:c.787+1669delC
	ENST00000644555.2:c.646+1669delC
	ENST00000477152.6:c.2378delC	ENST00000477152.6:p.Asp795IlefsTer25
	ENST00000484087.6:c.664+1669delC
	ENST00000494123.6:c.2456delC	ENST00000494123.6:p.Asp821IlefsTer25
	ENST00000478531.6:c.784+1669delC
	ENST00000493795.5:c.2315delC	ENST00000493795.5:p.Asp774IlefsTer25
	ENST00000471181.7:c.2456delC	ENST00000471181.7:p.Asp821IlefsTer25
	ENST00000497488.2:c.1568delC	ENST00000497488.2:p.Asp525IlefsTer25
	ENST00000591534.5:c.-43-18554delC
	ENST00000357654.9:c.2456delC	ENST00000357654.9:p.Asp821IlefsTer25
	ENST00000461574.2:c.2456delC	ENST00000461574.2:p.Asp821IlefsTer25
	ENST00000352993.7:c.671-2043delC
	ENST00000493919.6:c.646+1669delC
	ENST00000634433.2:c.2333delC	ENST00000634433.2:p.Asp780IlefsTer25
	ENST00000591849.5:c.-99+32196delC
	ENST00000713676.1:c.2456delC	ENST00000713676.1:p.Asp821IlefsTer25
	ENST00000644379.2:c.2456delC	ENST00000644379.2:p.Asp821IlefsTer25
	ENST00000470026.6:c.2456delC	ENST00000470026.6:p.Asp821IlefsTer25
	ENST00000491747.6:c.787+1669delC
	ENST00000586385.5:c.5-29124delC
	ENST00000618469.2:c.2456delC	ENST00000618469.2:p.Asp821IlefsTer25
	ENST00000476777.6:c.2453delC	ENST00000476777.6:p.Asp820IlefsTer25
	ENST00000700182.1:c.706+1669delC
	ENST00000489037.2:c.2378delC	ENST00000489037.2:p.Asp795IlefsTer25

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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	2016-09-08	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	unknown germline	Detail
Pathogenic	2023-08-01	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2023-03-20	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-01-30	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2013-04-01	no assertion criteria provided	Fanconi anemia, complementation group S	germline	Detail
Pathogenic	2022-04-16	criteria provided, single submitter	Pancreatic cancer, susceptibility to, 4,Familial cancer of breast,Fanconi anemia, complementation group S,Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail
Pathogenic	2022-04-16	criteria provided, single submitter	Pancreatic cancer, susceptibility to, 4,Familial cancer of breast,Fanconi anemia, complementation group S,Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail
Pathogenic	2022-04-16	criteria provided, single submitter	Pancreatic cancer, susceptibility to, 4,Familial cancer of breast,Fanconi anemia, complementation group S,Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail
Pathogenic	2022-04-16	criteria provided, single submitter	Pancreatic cancer, susceptibility to, 4,Familial cancer of breast,Fanconi anemia, complementation group S,Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	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
0.032	Epithelial ovarian cancer	This study describes an individual who was diagnosed with ovarian carcinoma at a...	BeFree	23269703	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) AND Fanconi anemia, complementation group S	ClinVar	Detail
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
This study describes an individual who was diagnosed with ovarian carcinoma at age 28 and found to h...	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: rs80357669 dbSNP
Genome: hg19
Position: chr17:41,245,092-41,245,092
Variant Type: snv
Reference Allele: G
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121358
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.648016612007449E-5

Genome browser