chr17:41197776:C>T 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	chr17:41,197,776-41,197,776
hg38	chr17:43,045,759-43,045,759 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007297.3:c.5370G>A	NP_009228.2:p.Trp1790Ter
	NM_007299.3:c.*25G>A
	NM_007300.3:c.5574G>A	NP_009231.2:p.Trp1858Ter
	NM_007298.3:c.2199G>A	NP_009229.2:p.Trp733Ter
	NM_007294.3:c.5511G>A	NP_009225.1:p.Trp1837Ter
Ensemble	ENST00000493795.5:c.5370G>A	ENST00000493795.5:p.Trp1790Ter
	ENST00000468300.5:c.*25G>A
	ENST00000591849.5:c.210G>A	ENST00000591849.5:p.Trp70Ter
	ENST00000586385.5:c.441G>A	ENST00000586385.5:p.Trp147Ter
	ENST00000591534.5:c.984G>A	ENST00000591534.5:p.Trp328Ter
	ENST00000471181.7:c.5574G>A	ENST00000471181.7:p.Trp1858Ter
	ENST00000491747.6:c.2199G>A	ENST00000491747.6:p.Trp733Ter
	ENST00000352993.7:c.2085G>A	ENST00000352993.7:p.Trp695Ter
	ENST00000357654.9:c.5511G>A	ENST00000357654.9:p.Trp1837Ter
	ENST00000478531.6:c.2199G>A	ENST00000478531.6:p.Trp733Ter
	ENST00000461574.2:c.5508G>A	ENST00000461574.2:p.Trp1836Ter
	ENST00000470026.6:c.5511G>A	ENST00000470026.6:p.Trp1837Ter
	ENST00000473961.6:c.5385G>A	ENST00000473961.6:p.Trp1795Ter
	ENST00000476777.6:c.5505G>A	ENST00000476777.6:p.Trp1835Ter
	ENST00000477152.6:c.5433G>A	ENST00000477152.6:p.Trp1811Ter
	ENST00000484087.6:c.2073G>A	ENST00000484087.6:p.Trp691Ter
	ENST00000489037.2:c.5433G>A	ENST00000489037.2:p.Trp1811Ter
	ENST00000493919.6:c.2061G>A	ENST00000493919.6:p.Trp687Ter
	ENST00000494123.6:c.5511G>A	ENST00000494123.6:p.Trp1837Ter
	ENST00000497488.2:c.4623G>A	ENST00000497488.2:p.Trp1541Ter
	ENST00000618469.2:c.5511G>A	ENST00000618469.2:p.Trp1837Ter
	ENST00000634433.2:c.5388G>A	ENST00000634433.2:p.Trp1796Ter
	ENST00000644379.2:c.5577G>A	ENST00000644379.2:p.Trp1859Ter
	ENST00000644555.2:c.2061G>A	ENST00000644555.2:p.Trp687Ter
	ENST00000713676.1:c.5511G>A	ENST00000713676.1:p.Trp1837Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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	2020/04/20	caecum	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

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	germline not applicable	Detail
Pathogenic	2022-12-12	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2019-06-11	no assertion criteria provided	Breast and/or ovarian cancer	germline	Detail
Pathogenic	2023-08-18	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

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

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	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: rs80356914 dbSNP
Genome: hg19
Position: chr17:41,197,776-41,197,776
Variant Type: snv
Reference Allele: C
Alternative Allele: T

Genome browser

chr17:41197776:C>T Detail (hg19) (BRCA1)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript