chr17:41245791: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	chr17:41,245,791-41,245,791
hg38	chr17:43,093,774-43,093,774 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007298.3:c.787+970C>T
	NM_007300.3:c.1757C>T	NP_009231.2:p.Pro586Leu
	NM_007294.3:c.1757C>T	NP_009225.1:p.Pro586Leu
	NM_007297.3:c.1616C>T	NP_009228.2:p.Pro539Leu
	NM_007299.3:c.787+970C>T
Ensemble	ENST00000489037.2:c.1679C>T	ENST00000489037.2:p.Pro560Leu
	ENST00000700182.1:c.706+970C>T
	ENST00000476777.6:c.1754C>T	ENST00000476777.6:p.Pro585Leu
	ENST00000644379.2:c.1757C>T	ENST00000644379.2:p.Pro586Leu
	ENST00000713676.1:c.1757C>T	ENST00000713676.1:p.Pro586Leu
	ENST00000618469.2:c.1757C>T	ENST00000618469.2:p.Pro586Leu
	ENST00000586385.5:c.5-29823C>T
	ENST00000491747.6:c.787+970C>T
	ENST00000470026.6:c.1757C>T	ENST00000470026.6:p.Pro586Leu
	ENST00000634433.2:c.1634C>T	ENST00000634433.2:p.Pro545Leu
	ENST00000591849.5:c.-99+31497C>T
	ENST00000352993.7:c.670+2072C>T
	ENST00000493919.6:c.646+970C>T
	ENST00000591534.5:c.-43-19253C>T
	ENST00000497488.2:c.869C>T	ENST00000497488.2:p.Pro290Leu
	ENST00000471181.7:c.1757C>T	ENST00000471181.7:p.Pro586Leu
	ENST00000461574.2:c.1757C>T	ENST00000461574.2:p.Pro586Leu
	ENST00000357654.9:c.1757C>T	ENST00000357654.9:p.Pro586Leu
	ENST00000478531.6:c.784+970C>T
	ENST00000484087.6:c.664+970C>T
	ENST00000494123.6:c.1757C>T	ENST00000494123.6:p.Pro586Leu
	ENST00000493795.5:c.1616C>T	ENST00000493795.5:p.Pro539Leu
	ENST00000644555.2:c.646+970C>T
	ENST00000468300.5:c.787+970C>T
	ENST00000473961.6:c.1631C>T	ENST00000473961.6:p.Pro544Leu
	ENST00000477152.6:c.1679C>T	ENST00000477152.6:p.Pro560Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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
Uncertain significance	2022-03-18	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Uncertain significance	2022-07-29	criteria provided, single submitter	not specified	germline	Detail
Conflicting interpretations of pathogenicity	2023-03-23	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.1757C>T (p.Pro586Leu) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.1757C>T (p.Pro586Leu) AND not specified	ClinVar	Detail
NM_007294.4(BRCA1):c.1757C>T (p.Pro586Leu) 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: rs1064795270 dbSNP
Genome: hg19
Position: chr17:41,245,791-41,245,791
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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