chr17:41201204:C>A Detail (hg19) (BRCA1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:41,201,204-41,201,204
hg38	chr17:43,049,187-43,049,187 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007297.3:c.5199G>T	NP_009228.2:p.Leu1733=
	NM_007299.3:c.2021-1484G>T
	NM_007298.3:c.2028G>T	NP_009229.2:p.Leu676=
	NM_007294.3:c.5340G>T	NP_009225.1:p.Leu1780=
	NM_007300.3:c.5403G>T	NP_009231.2:p.Leu1801=
Ensemble	ENST00000591849.5:c.39G>T	ENST00000591849.5:p.Leu13=
	ENST00000493795.5:c.5199G>T	ENST00000493795.5:p.Leu1733=
	ENST00000468300.5:c.2021-1484G>T
	ENST00000491747.6:c.2028G>T	ENST00000491747.6:p.Leu676=
	ENST00000357654.9:c.5340G>T	ENST00000357654.9:p.Leu1780=
	ENST00000586385.5:c.270G>T	ENST00000586385.5:p.Leu90=
	ENST00000471181.7:c.5403G>T	ENST00000471181.7:p.Leu1801=
	ENST00000591534.5:c.813G>T	ENST00000591534.5:p.Leu271=
	ENST00000352993.7:c.1914G>T	ENST00000352993.7:p.Leu638=
	ENST00000489037.2:c.5262G>T	ENST00000489037.2:p.Leu1754=
	ENST00000461574.2:c.5337G>T	ENST00000461574.2:p.Leu1779=
	ENST00000470026.6:c.5340G>T	ENST00000470026.6:p.Leu1780=
	ENST00000473961.6:c.5214G>T	ENST00000473961.6:p.Leu1738=
	ENST00000476777.6:c.5334G>T	ENST00000476777.6:p.Leu1778=
	ENST00000477152.6:c.5262G>T	ENST00000477152.6:p.Leu1754=
	ENST00000478531.6:c.2028G>T	ENST00000478531.6:p.Leu676=
	ENST00000484087.6:c.1902G>T	ENST00000484087.6:p.Leu634=
	ENST00000493919.6:c.1890G>T	ENST00000493919.6:p.Leu630=
	ENST00000494123.6:c.5340G>T	ENST00000494123.6:p.Leu1780=
	ENST00000497488.2:c.4452G>T	ENST00000497488.2:p.Leu1484=
	ENST00000618469.2:c.5340G>T	ENST00000618469.2:p.Leu1780=
	ENST00000634433.2:c.5217G>T	ENST00000634433.2:p.Leu1739=
	ENST00000644379.2:c.5406G>T	ENST00000644379.2:p.Leu1802=
	ENST00000644555.2:c.1890G>T	ENST00000644555.2:p.Leu630=
	ENST00000713676.1:c.5340G>T	ENST00000713676.1:p.Leu1780=

Summary

MGeND

Clinical significance	Uncertain significance not provided
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely benign
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
Uncertain significance	2021/03/19	Colorectal	germline	MGS000050 (TMGS000114)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo
not provided		bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2019-01-04	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely benign	2022-02-11	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.5340G>T (p.Leu1780=) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5340G>T (p.Leu1780=) AND Hereditary breast ovarian cancer 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: rs766700840 dbSNP
Genome: hg19
Position: chr17:41,201,204-41,201,204
Variant Type: snv
Reference Allele: C
Alternative Allele: A

Genome browser

chr17:41201204:C>A Detail (hg19) (BRCA1)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Clinical information of patient(s) with this variant provided by the submitter(s)

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript