chr17:41228590:G>A 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	chr17:41,228,590-41,228,590
hg38	chr17:43,076,573-43,076,573 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.4399C>T	NP_009225.1:p.Gln1467Ter
	NM_007299.3:c.1087C>T	NP_009230.2:p.Gln363Ter
	NM_007297.3:c.4258C>T	NP_009228.2:p.Gln1420Ter
	NM_007300.3:c.4462C>T	NP_009231.2:p.Gln1488Ter
	NM_007298.3:c.1087C>T	NP_009229.2:p.Gln363Ter
Ensemble	ENST00000497488.2:c.3511C>T	ENST00000497488.2:p.Gln1171Ter
	ENST00000591534.5:c.-43-2052C>T
	ENST00000357654.9:c.4399C>T	ENST00000357654.9:p.Gln1467Ter
	ENST00000493919.6:c.949C>T	ENST00000493919.6:p.Gln317Ter
	ENST00000468300.5:c.1087C>T	ENST00000468300.5:p.Gln363Ter
	ENST00000473961.6:c.4273C>T	ENST00000473961.6:p.Gln1425Ter
	ENST00000477152.6:c.4321C>T	ENST00000477152.6:p.Gln1441Ter
	ENST00000484087.6:c.961C>T	ENST00000484087.6:p.Gln321Ter
	ENST00000493795.5:c.4258C>T	ENST00000493795.5:p.Gln1420Ter
	ENST00000476777.6:c.4393C>T	ENST00000476777.6:p.Gln1465Ter
	ENST00000700182.1:c.1006C>T	ENST00000700182.1:p.Gln336Ter
	ENST00000489037.2:c.4321C>T	ENST00000489037.2:p.Gln1441Ter
	ENST00000634433.2:c.4276C>T	ENST00000634433.2:p.Gln1426Ter
	ENST00000713676.1:c.4399C>T	ENST00000713676.1:p.Gln1467Ter
	ENST00000470026.6:c.4399C>T	ENST00000470026.6:p.Gln1467Ter
	ENST00000618469.2:c.4399C>T	ENST00000618469.2:p.Gln1467Ter
	ENST00000586385.5:c.5-12622C>T
	ENST00000471181.7:c.4462C>T	ENST00000471181.7:p.Gln1488Ter
	ENST00000461574.2:c.4396C>T	ENST00000461574.2:p.Gln1466Ter
	ENST00000352993.7:c.973C>T	ENST00000352993.7:p.Gln325Ter
	ENST00000644555.2:c.949C>T	ENST00000644555.2:p.Gln317Ter
	ENST00000478531.6:c.1087C>T	ENST00000478531.6:p.Gln363Ter
	ENST00000494123.6:c.4399C>T	ENST00000494123.6:p.Gln1467Ter
	ENST00000591849.5:c.-98-26383C>T
	ENST00000644379.2:c.4465C>T	ENST00000644379.2:p.Gln1489Ter
	ENST00000491747.6:c.1087C>T	ENST00000491747.6:p.Gln363Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	COSM3983466	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2016-10-18	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline	Detail
Pathogenic	2023-08-16	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2010-07-07	no assertion criteria provided	Breast and/or ovarian cancer	germline	Detail
Uncertain significance		no assertion criteria provided	not provided	unknown	Detail
Pathogenic	2023-09-18	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	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

[No Data.]

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.4399C>T (p.Gln1467Ter) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	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: rs397509171 dbSNP
Genome: hg19
Position: chr17:41,228,590-41,228,590
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Variant (CIViC) (CIViC Variant): Q1467*
Transcript 1 (CIViC Variant): ENST00000357654.3
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1246

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