chr17:43124094:C>A 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	chr17:41,276,111-41,276,111 View the variant detail on this assembly version.
hg38	chr17:43,124,094-43,124,094

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.3G>T	NP_009225.1:p.?
	NM_007299.3:c.3G>T	NP_009230.2:p.?
	NM_007300.3:c.3G>T	NP_009231.2:p.?
	NM_007298.3:c.3G>T	NP_009229.2:p.?
	NM_007297.3:c.-85G>T
Ensemble	ENST00000352993.7:c.3G>T	ENST00000352993.7:p.?
	ENST00000357654.9:c.3G>T	ENST00000357654.9:p.?
	ENST00000461574.2:c.3G>T	ENST00000461574.2:p.?
	ENST00000468300.5:c.3G>T	ENST00000468300.5:p.?
	ENST00000470026.6:c.3G>T	ENST00000470026.6:p.?
	ENST00000471181.7:c.3G>T	ENST00000471181.7:p.?
	ENST00000473961.6:c.3G>T	ENST00000473961.6:p.?
	ENST00000476777.6:c.3G>T	ENST00000476777.6:p.?
	ENST00000477152.6:c.3G>T	ENST00000477152.6:p.?
	ENST00000478531.6:c.3G>T	ENST00000478531.6:p.?
	ENST00000484087.6:c.3G>T	ENST00000484087.6:p.?
	ENST00000489037.2:c.3G>T	ENST00000489037.2:p.?
	ENST00000491747.6:c.3G>T	ENST00000491747.6:p.?
	ENST00000493795.5:c.-85G>T
	ENST00000493919.6:c.-85G>T
	ENST00000494123.6:c.3G>T	ENST00000494123.6:p.?
	ENST00000497488.2:c.-219+1177G>T
	ENST00000586385.5:c.4+1088G>T
	ENST00000591534.5:c.-44+1177G>T
	ENST00000591849.5:c.-99+1177G>T
	ENST00000618469.2:c.3G>T	ENST00000618469.2:p.?
	ENST00000634433.2:c.3G>T	ENST00000634433.2:p.?
	ENST00000644379.2:c.3G>T	ENST00000644379.2:p.?
	ENST00000644555.2:c.-284G>T
	ENST00000700182.1:c.3G>T	ENST00000700182.1:p.?
	ENST00000713676.1:c.3G>T	ENST00000713676.1:p.?

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	2024-01-15	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2019-06-18	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline not applicable	Detail
Pathogenic	2019-03-27	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Fanconi anemia, complementation group S,Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Fanconi anemia, complementation group S,Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Fanconi anemia, complementation group S,Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Familial cancer of breast,Pancreatic cancer, susceptibility to, 4,Fanconi anemia, complementation group S,Breast-ovarian cancer, familial, susceptibility to, 1	unknown	Detail
Pathogenic		no assertion criteria provided	not provided	unknown	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.3G>T (p.Met1Ile) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) AND multiple conditions	ClinVar	Detail
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) 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: rs80357475 dbSNP
Genome: hg38
Position: chr17:43,124,094-43,124,094
Variant Type: snv
Reference Allele: C
Alternative Allele: A
Variant (CIViC) (CIViC Variant): M1I
Transcript 1 (CIViC Variant): ENST00000471181.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1237

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