chr17:41209087:T> 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	chr17:41,209,087-41,209,087
hg38	chr17:43,057,070-43,057,070

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007297.3:c.5118delA	NP_009228.2:p.Glu1707AsnfsTer11
	NM_007299.3:c.1947delA	NP_009230.2:p.Glu650AsnfsTer11
	NM_007300.3:c.5322delA	NP_009231.2:p.Glu1775AsnfsTer11
	NM_007294.3:c.5259delA	NP_009225.1:p.Glu1754AsnfsTer11
	NM_007298.3:c.1947delA	NP_009229.2:p.Glu650AsnfsTer11
Ensemble	ENST00000484087.6:c.1821delA	ENST00000484087.6:p.Glu608AsnfsTer11
	ENST00000494123.6:c.5259delA	ENST00000494123.6:p.Glu1754AsnfsTer11
	ENST00000478531.6:c.1947delA	ENST00000478531.6:p.Glu650AsnfsTer11
	ENST00000493795.5:c.5118delA	ENST00000493795.5:p.Glu1707AsnfsTer11
	ENST00000473961.6:c.5133delA	ENST00000473961.6:p.Glu1712AsnfsTer11
	ENST00000468300.5:c.1947delA	ENST00000468300.5:p.Glu650AsnfsTer11
	ENST00000644555.2:c.1809delA	ENST00000644555.2:p.Glu604AsnfsTer11
	ENST00000477152.6:c.5181delA	ENST00000477152.6:p.Glu1728AsnfsTer11
	ENST00000352993.7:c.1833delA	ENST00000352993.7:p.Glu612AsnfsTer11
	ENST00000493919.6:c.1809delA	ENST00000493919.6:p.Glu604AsnfsTer11
	ENST00000471181.7:c.5322delA	ENST00000471181.7:p.Glu1775AsnfsTer11
	ENST00000497488.2:c.4371delA	ENST00000497488.2:p.Glu1458AsnfsTer11
	ENST00000591534.5:c.732delA	ENST00000591534.5:p.Glu245AsnfsTer11
	ENST00000357654.9:c.5259delA	ENST00000357654.9:p.Glu1754AsnfsTer11
	ENST00000461574.2:c.5256delA	ENST00000461574.2:p.Glu1753AsnfsTer11
	ENST00000713676.1:c.5259delA	ENST00000713676.1:p.Glu1754AsnfsTer11
	ENST00000644379.2:c.5325delA	ENST00000644379.2:p.Glu1776AsnfsTer11
	ENST00000470026.6:c.5259delA	ENST00000470026.6:p.Glu1754AsnfsTer11
	ENST00000491747.6:c.1947delA	ENST00000491747.6:p.Glu650AsnfsTer11
	ENST00000586385.5:c.189delA	ENST00000586385.5:p.Glu64AsnfsTer11
	ENST00000618469.2:c.5259delA	ENST00000618469.2:p.Glu1754AsnfsTer11
	ENST00000634433.2:c.5136delA	ENST00000634433.2:p.Glu1713AsnfsTer11
	ENST00000591849.5:c.-98-6880delA
	ENST00000489037.2:c.5181delA	ENST00000489037.2:p.Glu1728AsnfsTer11
	ENST00000476777.6:c.5253delA	ENST00000476777.6:p.Glu1752AsnfsTer11

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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	germline	Detail
Pathogenic	2020-11-15	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2019-05-03	criteria provided, single submitter	not provided	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.5259del (p.Glu1754fs) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.5259del (p.Glu1754fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5259del (p.Glu1754fs) AND not provided	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: rs80357925 dbSNP
Genome: hg19
Position: chr17:41,209,087-41,209,087
Variant Type: snv
Reference Allele: T
Alternative Allele: -

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