chr17:41245438:TT> 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	chr17:41,245,438-41,245,439
hg38	chr17:43,093,421-43,093,422

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007299.3:c.787+1322_787+1323delAA
	NM_007297.3:c.1968_1969delAA	NP_009228.2:p.Asn657CysfsTer7
	NM_007294.3:c.2109_2110delAA	NP_009225.1:p.Asn704CysfsTer7
	NM_007300.3:c.2109_2110delAA	NP_009231.2:p.Asn704CysfsTer7
	NM_007298.3:c.787+1322_787+1323delAA
Ensemble	ENST00000477152.6:c.2031_2032delAA	ENST00000477152.6:p.Asn678CysfsTer7
	ENST00000473961.6:c.1983_1984delAA	ENST00000473961.6:p.Asn662CysfsTer7
	ENST00000468300.5:c.787+1322_787+1323delAA
	ENST00000644555.2:c.646+1322_646+1323delAA
	ENST00000493795.5:c.1968_1969delAA	ENST00000493795.5:p.Asn657CysfsTer7
	ENST00000484087.6:c.664+1322_664+1323delAA
	ENST00000494123.6:c.2109_2110delAA	ENST00000494123.6:p.Asn704CysfsTer7
	ENST00000478531.6:c.784+1322_784+1323delAA
	ENST00000357654.9:c.2109_2110delAA	ENST00000357654.9:p.Asn704CysfsTer7
	ENST00000461574.2:c.2109_2110delAA	ENST00000461574.2:p.Asn704CysfsTer7
	ENST00000591534.5:c.-43-18900_-43-18901delAA
	ENST00000471181.7:c.2109_2110delAA	ENST00000471181.7:p.Asn704CysfsTer7
	ENST00000497488.2:c.1221_1222delAA	ENST00000497488.2:p.Asn408CysfsTer7
	ENST00000493919.6:c.646+1322_646+1323delAA
	ENST00000352993.7:c.671-2390_671-2389delAA
	ENST00000591849.5:c.-99+31850_-99+31849delAA
	ENST00000634433.2:c.1986_1987delAA	ENST00000634433.2:p.Asn663CysfsTer7
	ENST00000586385.5:c.5-29471_5-29470delAA
	ENST00000618469.2:c.2109_2110delAA	ENST00000618469.2:p.Asn704CysfsTer7
	ENST00000470026.6:c.2109_2110delAA	ENST00000470026.6:p.Asn704CysfsTer7
	ENST00000491747.6:c.787+1322_787+1323delAA
	ENST00000713676.1:c.2109_2110delAA	ENST00000713676.1:p.Asn704CysfsTer7
	ENST00000644379.2:c.2109_2110delAA	ENST00000644379.2:p.Asn704CysfsTer7
	ENST00000700182.1:c.706+1322_706+1323delAA
	ENST00000476777.6:c.2106_2107delAA	ENST00000476777.6:p.Asn703CysfsTer7
	ENST00000489037.2:c.2031_2032delAA	ENST00000489037.2:p.Asn678CysfsTer7

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	2022-09-06	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2016-09-08	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline unknown	Detail
Pathogenic	2021-08-17	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2020-12-30	criteria provided, multiple submitters, no conflicts	not provided	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.2110_2111del (p.Asn704fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs) AND Breast-ovarian cancer, familial, susceptibility t...	ClinVar	Detail
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs) AND not provided	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: rs80357814 dbSNP
Genome: hg19
Position: chr17:41,245,438-41,245,439
Variant Type: snv
Reference Allele: TT
Alternative Allele: -

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