chr17:41244681:GATGA> Detail (hg19) (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	chr17:41,244,681-41,244,685
hg38	chr17:43,092,664-43,092,668

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007299.3:c.788-1636_788-1632delTCATC
	NM_007297.3:c.2722_2726delTCATC	NP_009228.2:p.Ser909ValfsTer13
	NM_007294.3:c.2863_2867delTCATC	NP_009225.1:p.Ser956ValfsTer13
	NM_007300.3:c.2863_2867delTCATC	NP_009231.2:p.Ser956ValfsTer13
	NM_007298.3:c.788-1636_788-1632delTCATC
Ensemble	ENST00000477152.6:c.2785_2789delTCATC	ENST00000477152.6:p.Ser930ValfsTer13
	ENST00000468300.5:c.788-1636_788-1632delTCATC
	ENST00000644555.2:c.647-1636_647-1632delTCATC
	ENST00000473961.6:c.2737_2741delTCATC	ENST00000473961.6:p.Ser914ValfsTer13
	ENST00000493795.5:c.2722_2726delTCATC	ENST00000493795.5:p.Ser909ValfsTer13
	ENST00000478531.6:c.785-1636_785-1632delTCATC
	ENST00000484087.6:c.665-1636_665-1632delTCATC
	ENST00000494123.6:c.2863_2867delTCATC	ENST00000494123.6:p.Ser956ValfsTer13
	ENST00000461574.2:c.2863_2867delTCATC	ENST00000461574.2:p.Ser956ValfsTer13
	ENST00000357654.9:c.2863_2867delTCATC	ENST00000357654.9:p.Ser956ValfsTer13
	ENST00000591534.5:c.-43-18143_-43-18147delTCATC
	ENST00000497488.2:c.1975_1979delTCATC	ENST00000497488.2:p.Ser660ValfsTer13
	ENST00000471181.7:c.2863_2867delTCATC	ENST00000471181.7:p.Ser956ValfsTer13
	ENST00000493919.6:c.647-1636_647-1632delTCATC
	ENST00000352993.7:c.671-1636_671-1632delTCATC
	ENST00000591849.5:c.-99+32607_-99+32603delTCATC
	ENST00000634433.2:c.2740_2744delTCATC	ENST00000634433.2:p.Ser915ValfsTer13
	ENST00000618469.2:c.2863_2867delTCATC	ENST00000618469.2:p.Ser956ValfsTer13
	ENST00000586385.5:c.5-28717_5-28713delTCATC
	ENST00000491747.6:c.788-1636_788-1632delTCATC
	ENST00000470026.6:c.2863_2867delTCATC	ENST00000470026.6:p.Ser956ValfsTer13
	ENST00000644379.2:c.2863_2867delTCATC	ENST00000644379.2:p.Ser956ValfsTer13
	ENST00000713676.1:c.2863_2867delTCATC	ENST00000713676.1:p.Ser956ValfsTer13
	ENST00000700182.1:c.707-1636_707-1632delTCATC
	ENST00000476777.6:c.2860_2864delTCATC	ENST00000476777.6:p.Ser955ValfsTer13
	ENST00000489037.2:c.2785_2789delTCATC	ENST00000489037.2:p.Ser930ValfsTer13

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	2020-07-17	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2016-04-22	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline unknown	Detail
Pathogenic	2024-01-21	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2016-07-01	criteria provided, single submitter	Familial cancer of breast	germline	Detail
Pathogenic	2022-06-13	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2020-10-19	criteria provided, single submitter	Fanconi anemia, complementation group S	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
0.420	Hereditary Breast and Ovarian Cancer Syndrome	NA	CLINVAR	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) AND Breast-ovarian cancer, familial, susceptibility t...	ClinVar	Detail
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) AND Familial cancer of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) AND Fanconi anemia, complementation group S	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: rs80357819 dbSNP
Genome: hg19
Position: chr17:41,244,681-41,244,685
Variant Type: snv
Reference Allele: GATGA
Alternative Allele: -

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