chr17:43076579:TAG>AA Detail (hg38) (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	chr17:41,228,596-41,228,598 View the variant detail on this assembly version.
hg38	chr17:43,076,579-43,076,581

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.4391_4393delinsTT	NP_009225.1:p.Pro1464LeufsTer2
	NM_007299.3:c.1079_1081delinsTT	NP_009230.2:p.Pro360LeufsTer2
	NM_007300.3:c.4454_4456delinsTT	NP_009231.2:p.Pro1485LeufsTer2
	NM_007298.3:c.1079_1081delinsTT	NP_009229.2:p.Pro360LeufsTer2
	NM_007297.3:c.4250_4252delinsTT	NP_009228.2:p.Pro1417LeufsTer2
Ensemble	ENST00000591849.5:c.-98-26389_-98-26391delinsTT
	ENST00000352993.7:c.965_967delinsTT	ENST00000352993.7:p.Pro322LeufsTer2
	ENST00000357654.9:c.4391_4393delinsTT	ENST00000357654.9:p.Pro1464LeufsTer2
	ENST00000461574.2:c.4388_4390delinsTT	ENST00000461574.2:p.Pro1463LeufsTer2
	ENST00000468300.5:c.1079_1081delinsTT	ENST00000468300.5:p.Pro360LeufsTer2
	ENST00000470026.6:c.4391_4393delinsTT	ENST00000470026.6:p.Pro1464LeufsTer2
	ENST00000471181.7:c.4454_4456delinsTT	ENST00000471181.7:p.Pro1485LeufsTer2
	ENST00000473961.6:c.4265_4267delinsTT	ENST00000473961.6:p.Pro1422LeufsTer2
	ENST00000476777.6:c.4385_4387delinsTT	ENST00000476777.6:p.Pro1462LeufsTer2
	ENST00000477152.6:c.4313_4315delinsTT	ENST00000477152.6:p.Pro1438LeufsTer2
	ENST00000478531.6:c.1079_1081delinsTT	ENST00000478531.6:p.Pro360LeufsTer2
	ENST00000484087.6:c.953_955delinsTT	ENST00000484087.6:p.Pro318LeufsTer2
	ENST00000489037.2:c.4313_4315delinsTT	ENST00000489037.2:p.Pro1438LeufsTer2
	ENST00000491747.6:c.1079_1081delinsTT	ENST00000491747.6:p.Pro360LeufsTer2
	ENST00000493795.5:c.4250_4252delinsTT	ENST00000493795.5:p.Pro1417LeufsTer2
	ENST00000493919.6:c.941_943delinsTT	ENST00000493919.6:p.Pro314LeufsTer2
	ENST00000494123.6:c.4391_4393delinsTT	ENST00000494123.6:p.Pro1464LeufsTer2
	ENST00000497488.2:c.3503_3505delinsTT	ENST00000497488.2:p.Pro1168LeufsTer2
	ENST00000586385.5:c.5-12630_5-12628delinsTT
	ENST00000591534.5:c.-43-2058_-43-2060delinsTT
	ENST00000618469.2:c.4391_4393delinsTT	ENST00000618469.2:p.Pro1464LeufsTer2
	ENST00000634433.2:c.4268_4270delinsTT	ENST00000634433.2:p.Pro1423LeufsTer2
	ENST00000644379.2:c.4457_4459delinsTT	ENST00000644379.2:p.Pro1486LeufsTer2
	ENST00000644555.2:c.941_943delinsTT	ENST00000644555.2:p.Pro314LeufsTer2
	ENST00000700182.1:c.998_1000delinsTT	ENST00000700182.1:p.Pro333LeufsTer2
	ENST00000713676.1:c.4391_4393delinsTT	ENST00000713676.1:p.Pro1464LeufsTer2

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	not provided germline	Detail
Pathogenic	2023-12-06	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2022-08-19	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2020-01-01	criteria provided, single submitter	Familial cancer of breast	germline	Detail
Pathogenic	2023-06-29	criteria provided, multiple submitters, no conflicts	not provided	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.4391_4393delinsTT (p.Pro1464fs) AND Breast-ovarian cancer, familial, susceptibi...	ClinVar	Detail
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) AND Familial cancer of breast	ClinVar	Detail
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) AND not provided	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: rs273900730 dbSNP
Genome: hg38
Position: chr17:43,076,579-43,076,581
Variant Type: snv
Reference Allele: TAG
Alternative Allele: AA

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