chr17:41244217:GCTT> Detail (hg19) (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	chr17:41,244,217-41,244,220
hg38	chr17:43,092,200-43,092,203

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007298.3:c.788-1171_788-1168delAAGC
	NM_007294.3:c.3328_3331delAAGC	NP_009225.1:p.Gln1111AsnfsTer5
	NM_007300.3:c.3328_3331delAAGC	NP_009231.2:p.Gln1111AsnfsTer5
	NM_007299.3:c.788-1171_788-1168delAAGC
	NM_007297.3:c.3187_3190delAAGC	NP_009228.2:p.Gln1064AsnfsTer5
Ensemble	ENST00000700182.1:c.707-1171_707-1168delAAGC
	ENST00000476777.6:c.3325_3328delAAGC	ENST00000476777.6:p.Gln1110AsnfsTer5
	ENST00000489037.2:c.3250_3253delAAGC	ENST00000489037.2:p.Gln1085AsnfsTer5
	ENST00000591849.5:c.-99+33071_-99+33068delAAGC
	ENST00000634433.2:c.3205_3208delAAGC	ENST00000634433.2:p.Gln1070AsnfsTer5
	ENST00000586385.5:c.5-28252_5-28249delAAGC
	ENST00000618469.2:c.3328_3331delAAGC	ENST00000618469.2:p.Gln1111AsnfsTer5
	ENST00000470026.6:c.3328_3331delAAGC	ENST00000470026.6:p.Gln1111AsnfsTer5
	ENST00000491747.6:c.788-1171_788-1168delAAGC
	ENST00000713676.1:c.3328_3331delAAGC	ENST00000713676.1:p.Gln1111AsnfsTer5
	ENST00000644379.2:c.3328_3331delAAGC	ENST00000644379.2:p.Gln1111AsnfsTer5
	ENST00000357654.9:c.3328_3331delAAGC	ENST00000357654.9:p.Gln1111AsnfsTer5
	ENST00000461574.2:c.3328_3331delAAGC	ENST00000461574.2:p.Gln1111AsnfsTer5
	ENST00000591534.5:c.-43-17679_-43-17682delAAGC
	ENST00000471181.7:c.3328_3331delAAGC	ENST00000471181.7:p.Gln1111AsnfsTer5
	ENST00000497488.2:c.2440_2443delAAGC	ENST00000497488.2:p.Gln815AsnfsTer5
	ENST00000493919.6:c.647-1171_647-1168delAAGC
	ENST00000352993.7:c.671-1171_671-1168delAAGC
	ENST00000477152.6:c.3250_3253delAAGC	ENST00000477152.6:p.Gln1085AsnfsTer5
	ENST00000473961.6:c.3202_3205delAAGC	ENST00000473961.6:p.Gln1069AsnfsTer5
	ENST00000644555.2:c.647-1171_647-1168delAAGC
	ENST00000468300.5:c.788-1171_788-1168delAAGC
	ENST00000493795.5:c.3187_3190delAAGC	ENST00000493795.5:p.Gln1064AsnfsTer5
	ENST00000484087.6:c.665-1171_665-1168delAAGC
	ENST00000494123.6:c.3328_3331delAAGC	ENST00000494123.6:p.Gln1111AsnfsTer5
	ENST00000478531.6:c.785-1171_785-1168delAAGC

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	2016-04-22	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	unknown germline	Detail
Pathogenic	2024-01-04	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2022-12-14	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-01-26	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline unknown	Detail
Pathogenic		criteria provided, single submitter	Breast neoplasm	germline	Detail
Pathogenic	2022-05-26	criteria provided, single submitter	Breast and/or ovarian cancer	germline	Detail
Pathogenic		no assertion criteria provided		unknown	Detail
Pathogenic	2022-04-17	criteria provided, single submitter	Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail
Pathogenic	2022-04-17	criteria provided, single submitter	Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail
Pathogenic	2022-04-17	criteria provided, single submitter	Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail
Pathogenic	2022-04-17	criteria provided, single submitter	Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Links
0.360	Breast-ovarian cancer, familial, susceptibility to, 1	NA	CLINVAR	Detail
0.196	Breast Cancer, Familial	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.3331_3334del (p.Gln1111fs) AND Breast-ovarian cancer, familial, susceptibility ...	ClinVar	Detail
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND Breast neoplasm	ClinVar	Detail
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND Malignant tumor of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	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: rs80357701 dbSNP
Genome: hg19
Position: chr17:41,244,217-41,244,220
Variant Type: snv
Reference Allele: GCTT
Alternative Allele: -

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