chr17:41246103:ATTA> 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	chr17:41,246,103-41,246,106
hg38	chr17:43,094,086-43,094,089

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007298.3:c.787+655_787+658delTAAT
	NM_007299.3:c.787+655_787+658delTAAT
	NM_007297.3:c.1301_1304delTAAT	NP_009228.2:p.Ile435Ter
	NM_007294.3:c.1442_1445delTAAT	NP_009225.1:p.Ile482Ter
	NM_007300.3:c.1442_1445delTAAT	NP_009231.2:p.Ile482Ter
Ensemble	ENST00000591849.5:c.-99+31185_-99+31182delTAAT
	ENST00000634433.2:c.1319_1322delTAAT	ENST00000634433.2:p.Ile441Ter
	ENST00000470026.6:c.1442_1445delTAAT	ENST00000470026.6:p.Ile482Ter
	ENST00000491747.6:c.787+655_787+658delTAAT
	ENST00000586385.5:c.5-30138_5-30135delTAAT
	ENST00000618469.2:c.1442_1445delTAAT	ENST00000618469.2:p.Ile482Ter
	ENST00000713676.1:c.1442_1445delTAAT	ENST00000713676.1:p.Ile482Ter
	ENST00000644379.2:c.1442_1445delTAAT	ENST00000644379.2:p.Ile482Ter
	ENST00000476777.6:c.1439_1442delTAAT	ENST00000476777.6:p.Ile481Ter
	ENST00000700182.1:c.706+655_706+658delTAAT
	ENST00000489037.2:c.1364_1367delTAAT	ENST00000489037.2:p.Ile456Ter
	ENST00000477152.6:c.1364_1367delTAAT	ENST00000477152.6:p.Ile456Ter
	ENST00000473961.6:c.1316_1319delTAAT	ENST00000473961.6:p.Ile440Ter
	ENST00000468300.5:c.787+655_787+658delTAAT
	ENST00000644555.2:c.646+655_646+658delTAAT
	ENST00000493795.5:c.1301_1304delTAAT	ENST00000493795.5:p.Ile435Ter
	ENST00000484087.6:c.664+655_664+658delTAAT
	ENST00000494123.6:c.1442_1445delTAAT	ENST00000494123.6:p.Ile482Ter
	ENST00000478531.6:c.784+655_784+658delTAAT
	ENST00000357654.9:c.1442_1445delTAAT	ENST00000357654.9:p.Ile482Ter
	ENST00000461574.2:c.1442_1445delTAAT	ENST00000461574.2:p.Ile482Ter
	ENST00000471181.7:c.1442_1445delTAAT	ENST00000471181.7:p.Ile482Ter
	ENST00000497488.2:c.554_557delTAAT	ENST00000497488.2:p.Ile186Ter
	ENST00000591534.5:c.-43-19565_-43-19568delTAAT
	ENST00000493919.6:c.646+655_646+658delTAAT
	ENST00000352993.7:c.670+1757_670+1760delTAAT

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	2016-09-08	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	unknown germline	Detail
Pathogenic	2015-02-10	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2023-11-10	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Breast-ovarian cancer, familial, susceptibility to, 1	NA	CLINVAR		Detail
0.420	Hereditary Breast and Ovarian Cancer Syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer) AND Breast-ovarian cancer, familial, susce...	ClinVar	Detail
NM_007294.4(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer) AND Hereditary breast ovarian cancer syndr...	ClinVar	Detail
NM_007294.4(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer) AND Hereditary cancer-predisposing syndrom...	ClinVar	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: rs80357801 dbSNP
Genome: hg19
Position: chr17:41,246,103-41,246,106
Variant Type: snv
Reference Allele: ATTA
Alternative Allele: -

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