chr17:41246750:AA> 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	chr17:41,246,750-41,246,751
hg38	chr17:43,094,733-43,094,734

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007298.3:c.787+10_787+11delTT
	NM_007299.3:c.787+10_787+11delTT
	NM_007297.3:c.656_657delTT	NP_009228.2:p.Ser220LysfsTer19
	NM_007294.3:c.797_798delTT	NP_009225.1:p.Ser267LysfsTer19
	NM_007300.3:c.797_798delTT	NP_009231.2:p.Ser267LysfsTer19
Ensemble	ENST00000591849.5:c.-99+30538_-99+30537delTT
	ENST00000634433.2:c.674_675delTT	ENST00000634433.2:p.Ser226LysfsTer19
	ENST00000618469.2:c.797_798delTT	ENST00000618469.2:p.Ser267LysfsTer19
	ENST00000586385.5:c.4+30448_4+30449delTT
	ENST00000491747.6:c.787+10_787+11delTT
	ENST00000470026.6:c.797_798delTT	ENST00000470026.6:p.Ser267LysfsTer19
	ENST00000644379.2:c.797_798delTT	ENST00000644379.2:p.Ser267LysfsTer19
	ENST00000713676.1:c.797_798delTT	ENST00000713676.1:p.Ser267LysfsTer19
	ENST00000700182.1:c.706+10_706+11delTT
	ENST00000476777.6:c.794_795delTT	ENST00000476777.6:p.Ser266LysfsTer19
	ENST00000489037.2:c.719_720delTT	ENST00000489037.2:p.Ser241LysfsTer19
	ENST00000477152.6:c.719_720delTT	ENST00000477152.6:p.Ser241LysfsTer19
	ENST00000644555.2:c.646+10_646+11delTT
	ENST00000468300.5:c.787+10_787+11delTT
	ENST00000473961.6:c.671_672delTT	ENST00000473961.6:p.Ser225LysfsTer19
	ENST00000493795.5:c.656_657delTT	ENST00000493795.5:p.Ser220LysfsTer19
	ENST00000478531.6:c.784+10_784+11delTT
	ENST00000484087.6:c.664+10_664+11delTT
	ENST00000494123.6:c.797_798delTT	ENST00000494123.6:p.Ser267LysfsTer19
	ENST00000461574.2:c.797_798delTT	ENST00000461574.2:p.Ser267LysfsTer19
	ENST00000357654.9:c.797_798delTT	ENST00000357654.9:p.Ser267LysfsTer19
	ENST00000591534.5:c.-43-20212_-43-20213delTT
	ENST00000497488.2:c.-91_-92delTT
	ENST00000471181.7:c.797_798delTT	ENST00000471181.7:p.Ser267LysfsTer19
	ENST00000493919.6:c.646+10_646+11delTT
	ENST00000352993.7:c.670+1112_670+1113delTT

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	2016-04-22	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	unknown germline	Detail
Pathogenic	2023-07-28	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2023-03-06	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-01-22	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2016-09-19	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2021-06-11	criteria provided, single submitter	Breast and/or ovarian cancer	germline	Detail
Pathogenic	2020-04-08	no assertion criteria provided	Familial cancer of breast	germline	Detail
Pathogenic	2021-09-09	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Fanconi anemia, complementation group S	unknown	Detail
Pathogenic	2021-09-09	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Fanconi anemia, complementation group S	unknown	Detail
Pathogenic	2021-09-09	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Fanconi anemia, complementation group S	unknown	Detail
Pathogenic	2021-09-09	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Fanconi anemia, complementation group S	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Breast-ovarian cancer, familial, susceptibility to, 1	NA	CLINVAR		Detail
0.196	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
0.360	Malignant neoplasm of breast	The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in...	BeFree	22684231	Detail
0.080	breast carcinoma	The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in...	BeFree	22684231	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) AND Breast-ovarian cancer, familial, susceptibility to,...	ClinVar	Detail
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) AND not specified	ClinVar	Detail
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) AND Familial cancer of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in co-occurrence in tr...	DisGeNET	Detail
The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in co-occurrence in tr...	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: rs80357724 dbSNP
Genome: hg19
Position: chr17:41,246,750-41,246,751
Variant Type: snv
Reference Allele: AA
Alternative Allele: -

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