chr17:43093119:CT> 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	chr17:41,245,136-41,245,137
hg38	chr17:43,093,119-43,093,120

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.2411_2412delAG	NP_009225.1:p.Gln804LeufsTer5
	NM_007299.3:c.787+1624_787+1625delAG
	NM_007300.3:c.2411_2412delAG	NP_009231.2:p.Gln804LeufsTer5
	NM_007298.3:c.787+1624_787+1625delAG
	NM_007297.3:c.2270_2271delAG	NP_009228.2:p.Gln757LeufsTer5
Ensemble	ENST00000352993.7:c.671-2088_671-2087delAG
	ENST00000357654.9:c.2411_2412delAG	ENST00000357654.9:p.Gln804LeufsTer5
	ENST00000461574.2:c.2411_2412delAG	ENST00000461574.2:p.Gln804LeufsTer5
	ENST00000468300.5:c.787+1624_787+1625delAG
	ENST00000470026.6:c.2411_2412delAG	ENST00000470026.6:p.Gln804LeufsTer5
	ENST00000471181.7:c.2411_2412delAG	ENST00000471181.7:p.Gln804LeufsTer5
	ENST00000473961.6:c.2285_2286delAG	ENST00000473961.6:p.Gln762LeufsTer5
	ENST00000476777.6:c.2408_2409delAG	ENST00000476777.6:p.Gln803LeufsTer5
	ENST00000477152.6:c.2333_2334delAG	ENST00000477152.6:p.Gln778LeufsTer5
	ENST00000478531.6:c.784+1624_784+1625delAG
	ENST00000484087.6:c.664+1624_664+1625delAG
	ENST00000489037.2:c.2333_2334delAG	ENST00000489037.2:p.Gln778LeufsTer5
	ENST00000491747.6:c.787+1624_787+1625delAG
	ENST00000493795.5:c.2270_2271delAG	ENST00000493795.5:p.Gln757LeufsTer5
	ENST00000493919.6:c.646+1624_646+1625delAG
	ENST00000494123.6:c.2411_2412delAG	ENST00000494123.6:p.Gln804LeufsTer5
	ENST00000497488.2:c.1523_1524delAG	ENST00000497488.2:p.Gln508LeufsTer5
	ENST00000586385.5:c.5-29169_5-29168delAG
	ENST00000591534.5:c.-43-18598_-43-18599delAG
	ENST00000591849.5:c.-99+32152_-99+32151delAG
	ENST00000618469.2:c.2411_2412delAG	ENST00000618469.2:p.Gln804LeufsTer5
	ENST00000634433.2:c.2288_2289delAG	ENST00000634433.2:p.Gln763LeufsTer5
	ENST00000644379.2:c.2411_2412delAG	ENST00000644379.2:p.Gln804LeufsTer5
	ENST00000644555.2:c.646+1624_646+1625delAG
	ENST00000700182.1:c.706+1624_706+1625delAG
	ENST00000713676.1:c.2411_2412delAG	ENST00000713676.1:p.Gln804LeufsTer5

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 unknown	Detail
Pathogenic	2023-11-08	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2023-04-10	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-10-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2024-01-12	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	maternal germline	Detail
Pathogenic	2019-06-11	no assertion criteria provided	Breast and/or ovarian cancer	germline	Detail
Pathogenic	2023-02-21	no assertion criteria provided	endometrial carcinoma	germline unknown	Detail
Pathogenic	2021-03-04	no assertion criteria provided	Carcinoma of pancreas	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.2411_2412del (p.Gln804fs) AND Breast-ovarian cancer, familial, susceptibility t...	ClinVar	Detail
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) AND Familial cancer of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) AND Endometrial carcinoma	ClinVar	Detail
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) AND Carcinoma of pancreas	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: rs80357664 dbSNP
Genome: hg38
Position: chr17:43,093,119-43,093,120
Variant Type: snv
Reference Allele: CT
Alternative Allele: -

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