chr17:43091658:A> Detail (hg38) (BRCA1, LOC126862571)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr17:41,243,675-41,243,675
hg38	chr17:43,091,658-43,091,658

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.3873delT	NP_009225.1:p.Ser1292LeufsTer15
	NM_007299.3:c.788-626delT
	NM_007300.3:c.3873delT	NP_009231.2:p.Ser1292LeufsTer15
	NM_007298.3:c.788-626delT
	NM_007297.3:c.3732delT	NP_009228.2:p.Ser1245LeufsTer15
Ensemble	ENST00000352993.7:c.671-626delT
	ENST00000357654.9:c.3873delT	ENST00000357654.9:p.Ser1292LeufsTer15
	ENST00000461574.2:c.3873delT	ENST00000461574.2:p.Ser1292LeufsTer15
	ENST00000468300.5:c.788-626delT
	ENST00000470026.6:c.3873delT	ENST00000470026.6:p.Ser1292LeufsTer15
	ENST00000471181.7:c.3873delT	ENST00000471181.7:p.Ser1292LeufsTer15
	ENST00000473961.6:c.3747delT	ENST00000473961.6:p.Ser1250LeufsTer15
	ENST00000476777.6:c.3870delT	ENST00000476777.6:p.Ser1291LeufsTer15
	ENST00000477152.6:c.3795delT	ENST00000477152.6:p.Ser1266LeufsTer15
	ENST00000478531.6:c.785-626delT
	ENST00000484087.6:c.665-626delT
	ENST00000489037.2:c.3795delT	ENST00000489037.2:p.Ser1266LeufsTer15
	ENST00000491747.6:c.788-626delT
	ENST00000493795.5:c.3732delT	ENST00000493795.5:p.Ser1245LeufsTer15
	ENST00000493919.6:c.647-626delT
	ENST00000494123.6:c.3873delT	ENST00000494123.6:p.Ser1292LeufsTer15
	ENST00000497488.2:c.2985delT	ENST00000497488.2:p.Ser996LeufsTer15
	ENST00000586385.5:c.5-27707delT
	ENST00000591534.5:c.-43-17137delT
	ENST00000591849.5:c.-99+33613delT
	ENST00000618469.2:c.3873delT	ENST00000618469.2:p.Ser1292LeufsTer15
	ENST00000634433.2:c.3750delT	ENST00000634433.2:p.Ser1251LeufsTer15
	ENST00000644379.2:c.3873delT	ENST00000644379.2:p.Ser1292LeufsTer15
	ENST00000644555.2:c.647-626delT
	ENST00000700182.1:c.707-626delT
	ENST00000713676.1:c.3873delT	ENST00000713676.1:p.Ser1292LeufsTer15

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	2014-06-11	no assertion criteria provided	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2013-11-11	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2016-09-08	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline	Detail
Pathogenic	2024-02-06	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
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.3874del (p.Ser1292fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.3874del (p.Ser1292fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.3874del (p.Ser1292fs) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.3874del (p.Ser1292fs) 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: rs587780802 dbSNP
Genome: hg38
Position: chr17:43,091,658-43,091,658
Variant Type: snv
Reference Allele: A
Alternative Allele: -

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