chr17:41219669:GTTA> Detail (hg19) (BRCA1)

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

Information

Genome

Assembly	Position
hg19	chr17:41,219,669-41,219,672
hg38	chr17:43,067,652-43,067,655

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007297.3:c.4886_4889delTAAC	NP_009228.2:p.Thr1630IlefsTer2
	NM_007294.3:c.5027_5030delTAAC	NP_009225.1:p.Thr1677IlefsTer2
	NM_007300.3:c.5090_5093delTAAC	NP_009231.2:p.Thr1698IlefsTer2
	NM_007299.3:c.1715_1718delTAAC	NP_009230.2:p.Thr573IlefsTer2
	NM_007298.3:c.1715_1718delTAAC	NP_009229.2:p.Thr573IlefsTer2
Ensemble	ENST00000493795.5:c.4886_4889delTAAC	ENST00000493795.5:p.Thr1630IlefsTer2
	ENST00000357654.9:c.5027_5030delTAAC	ENST00000357654.9:p.Thr1677IlefsTer2
	ENST00000471181.7:c.5090_5093delTAAC	ENST00000471181.7:p.Thr1698IlefsTer2
	ENST00000493919.6:c.1577_1580delTAAC	ENST00000493919.6:p.Thr527IlefsTer2
	ENST00000352993.7:c.1601_1604delTAAC	ENST00000352993.7:p.Thr535IlefsTer2
	ENST00000586385.5:c.5-3704_5-3701delTAAC
	ENST00000478531.6:c.1715_1718delTAAC	ENST00000478531.6:p.Thr573IlefsTer2
	ENST00000591849.5:c.-98-17462_-98-17465delTAAC
	ENST00000468300.5:c.1715_1718delTAAC	ENST00000468300.5:p.Thr573IlefsTer2
	ENST00000591534.5:c.500_503delTAAC	ENST00000591534.5:p.Thr168IlefsTer2
	ENST00000484087.6:c.1589_1592delTAAC	ENST00000484087.6:p.Thr531IlefsTer2
	ENST00000491747.6:c.1715_1718delTAAC	ENST00000491747.6:p.Thr573IlefsTer2
	ENST00000476777.6:c.5021_5024delTAAC	ENST00000476777.6:p.Thr1675IlefsTer2
	ENST00000461574.2:c.5024_5027delTAAC	ENST00000461574.2:p.Thr1676IlefsTer2
	ENST00000470026.6:c.5027_5030delTAAC	ENST00000470026.6:p.Thr1677IlefsTer2
	ENST00000473961.6:c.4901_4904delTAAC	ENST00000473961.6:p.Thr1635IlefsTer2
	ENST00000477152.6:c.4949_4952delTAAC	ENST00000477152.6:p.Thr1651IlefsTer2
	ENST00000489037.2:c.4949_4952delTAAC	ENST00000489037.2:p.Thr1651IlefsTer2
	ENST00000494123.6:c.5027_5030delTAAC	ENST00000494123.6:p.Thr1677IlefsTer2
	ENST00000497488.2:c.4139_4142delTAAC	ENST00000497488.2:p.Thr1381IlefsTer2
	ENST00000618469.2:c.5027_5030delTAAC	ENST00000618469.2:p.Thr1677IlefsTer2
	ENST00000634433.2:c.4904_4907delTAAC	ENST00000634433.2:p.Thr1636IlefsTer2
	ENST00000644379.2:c.5093_5096delTAAC	ENST00000644379.2:p.Thr1699IlefsTer2
	ENST00000644555.2:c.1577_1580delTAAC	ENST00000644555.2:p.Thr527IlefsTer2
	ENST00000713676.1:c.5027_5030delTAAC	ENST00000713676.1:p.Thr1677IlefsTer2

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2021/03/19	control	germline	MGS000047 (TMGS000111)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo
Pathogenic		breast-ovarian cancer, familial, susceptibility to	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University

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	unknown germline	Detail
Pathogenic	2023-12-08	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline unknown	Detail
Pathogenic	2023-11-13	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-11-06	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2015-11-01	criteria provided, single submitter	Breast neoplasm	germline	Detail
Pathogenic	2013-11-04	no assertion criteria provided	Breast and/or ovarian cancer	germline	Detail
Pathogenic		no assertion criteria provided		unknown	Detail
Pathogenic	2021-11-18	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4	unknown	Detail
Pathogenic	2021-11-18	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4	unknown	Detail
Pathogenic	2021-11-18	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4	unknown	Detail
Pathogenic	2021-11-18	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4	unknown	Detail
Pathogenic		no assertion criteria provided	Familial cancer of breast	germline	Detail
Pathogenic	2021-07-01	no assertion criteria provided	Gastric 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.5030_5033del (p.Thr1677fs) AND Breast-ovarian cancer, familial, susceptibility ...	ClinVar	Detail
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND Breast neoplasm	ClinVar	Detail
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND Malignant tumor of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND Familial cancer of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) AND Gastric 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: rs80357580 dbSNP
Genome: hg19
Position: chr17:41,219,669-41,219,672
Variant Type: snv
Reference Allele: GTTA
Alternative Allele: -

Genome browser

chr17:41219669:GTTA> Detail (hg19) (BRCA1)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Clinical information of patient(s) with this variant provided by the submitter(s)

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript