chr17:43106477:C>T Detail (hg38) (BRCA1)

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

Information

Genome

Assembly	Position
hg19	chr17:41,258,494-41,258,494 View the variant detail on this assembly version.
hg38	chr17:43,106,477-43,106,477

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.191G>A	NP_009225.1:p.Cys64Tyr
	NM_007299.3:c.191G>A	NP_009230.2:p.Cys64Tyr
	NM_007300.3:c.191G>A	NP_009231.2:p.Cys64Tyr
	NM_007298.3:c.191G>A	NP_009229.2:p.Cys64Tyr
	NM_007297.3:c.50G>A	NP_009228.2:p.Cys17Tyr
Ensemble	ENST00000352993.7:c.191G>A	ENST00000352993.7:p.Cys64Tyr
	ENST00000357654.9:c.191G>A	ENST00000357654.9:p.Cys64Tyr
	ENST00000461574.2:c.191G>A	ENST00000461574.2:p.Cys64Tyr
	ENST00000468300.5:c.191G>A	ENST00000468300.5:p.Cys64Tyr
	ENST00000470026.6:c.191G>A	ENST00000470026.6:p.Cys64Tyr
	ENST00000471181.7:c.191G>A	ENST00000471181.7:p.Cys64Tyr
	ENST00000473961.6:c.191G>A	ENST00000473961.6:p.Cys64Tyr
	ENST00000476777.6:c.191G>A	ENST00000476777.6:p.Cys64Tyr
	ENST00000477152.6:c.135-1521G>A
	ENST00000478531.6:c.191G>A	ENST00000478531.6:p.Cys64Tyr
	ENST00000484087.6:c.191G>A	ENST00000484087.6:p.Cys64Tyr
	ENST00000489037.2:c.135-1521G>A
	ENST00000491747.6:c.191G>A	ENST00000491747.6:p.Cys64Tyr
	ENST00000493795.5:c.50G>A	ENST00000493795.5:p.Cys17Tyr
	ENST00000493919.6:c.50G>A	ENST00000493919.6:p.Cys17Tyr
	ENST00000494123.6:c.191G>A	ENST00000494123.6:p.Cys64Tyr
	ENST00000497488.2:c.-218-11617G>A
	ENST00000586385.5:c.4+18705G>A
	ENST00000591534.5:c.-44+18794G>A
	ENST00000591849.5:c.-99+18794G>A
	ENST00000618469.2:c.191G>A	ENST00000618469.2:p.Cys64Tyr
	ENST00000634433.2:c.191G>A	ENST00000634433.2:p.Cys64Tyr
	ENST00000644379.2:c.191G>A	ENST00000644379.2:p.Cys64Tyr
	ENST00000644555.2:c.50G>A	ENST00000644555.2:p.Cys17Tyr
	ENST00000700182.1:c.135-1521G>A
	ENST00000713676.1:c.191G>A	ENST00000713676.1:p.Cys64Tyr

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	2023-11-27	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2024-04-23	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	unknown germline not applicable paternal	Detail
Pathogenic	2021-08-30	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-08-15	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2023-08-18	criteria provided, single submitter	Pancreatic cancer, susceptibility to, 4	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
ovarian cancer	Rucaparib	C	Predictive	Supports	Sensitivity/Response	Somatic		27908594	Detail

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

Annotation

Annotations

Descrption	Source	Links
In a phase 2 study of 206 recurrent, platinum-sensitive, high-grade ovarian cancer patients, patient...	CIViC Evidence	Detail
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) AND Pancreatic cancer, susceptibility to, 4	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: rs55851803 dbSNP
Genome: hg38
Position: chr17:43,106,477-43,106,477
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Variant (CIViC) (CIViC Variant): C64Y
Transcript 1 (CIViC Variant): ENST00000471181.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1239

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