chr17:43091861:G> Detail (hg38) (BRCA1, LOC126862571)

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

Information

Genome

Assembly	Position
hg19	chr17:41,243,878-41,243,878
hg38	chr17:43,091,861-43,091,861

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.3670delC	NP_009225.1:p.Cys1225AlafsTer10
	NM_007299.3:c.788-829delC
	NM_007300.3:c.3670delC	NP_009231.2:p.Cys1225AlafsTer10
	NM_007298.3:c.788-829delC
	NM_007297.3:c.3529delC	NP_009228.2:p.Cys1178AlafsTer10
Ensemble	ENST00000352993.7:c.671-829delC
	ENST00000357654.9:c.3670delC	ENST00000357654.9:p.Cys1225AlafsTer10
	ENST00000461574.2:c.3670delC	ENST00000461574.2:p.Cys1225AlafsTer10
	ENST00000468300.5:c.788-829delC
	ENST00000470026.6:c.3670delC	ENST00000470026.6:p.Cys1225AlafsTer10
	ENST00000471181.7:c.3670delC	ENST00000471181.7:p.Cys1225AlafsTer10
	ENST00000473961.6:c.3544delC	ENST00000473961.6:p.Cys1183AlafsTer10
	ENST00000476777.6:c.3667delC	ENST00000476777.6:p.Cys1224AlafsTer10
	ENST00000477152.6:c.3592delC	ENST00000477152.6:p.Cys1199AlafsTer10
	ENST00000478531.6:c.785-829delC
	ENST00000484087.6:c.665-829delC
	ENST00000489037.2:c.3592delC	ENST00000489037.2:p.Cys1199AlafsTer10
	ENST00000491747.6:c.788-829delC
	ENST00000493795.5:c.3529delC	ENST00000493795.5:p.Cys1178AlafsTer10
	ENST00000493919.6:c.647-829delC
	ENST00000494123.6:c.3670delC	ENST00000494123.6:p.Cys1225AlafsTer10
	ENST00000497488.2:c.2782delC	ENST00000497488.2:p.Cys929AlafsTer10
	ENST00000586385.5:c.5-27910delC
	ENST00000591534.5:c.-43-17340delC
	ENST00000591849.5:c.-99+33410delC
	ENST00000618469.2:c.3670delC	ENST00000618469.2:p.Cys1225AlafsTer10
	ENST00000634433.2:c.3547delC	ENST00000634433.2:p.Cys1184AlafsTer10
	ENST00000644379.2:c.3670delC	ENST00000644379.2:p.Cys1225AlafsTer10
	ENST00000644555.2:c.647-829delC
	ENST00000700182.1:c.707-829delC
	ENST00000713676.1:c.3670delC	ENST00000713676.1:p.Cys1225AlafsTer10

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	2021-01-07	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-07-29	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2023-06-14	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2020-10-07	criteria provided, single submitter	peritoneum cancer	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.3672del (p.Cys1225fs) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.3672del (p.Cys1225fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.3672del (p.Cys1225fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.3672del (p.Cys1225fs) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.3672del (p.Cys1225fs) AND Peritoneum cancer	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: rs398122677 dbSNP
Genome: hg38
Position: chr17:43,091,861-43,091,861
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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