chr17:43090965:CT> 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	chr17:41,242,982-41,242,983
hg38	chr17:43,090,965-43,090,966

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.4163_4164delAG	NP_009225.1:p.Ser1389Ter
	NM_007299.3:c.854_855delAG	NP_009230.2:p.Ser286Ter
	NM_007300.3:c.4163_4164delAG	NP_009231.2:p.Ser1389Ter
	NM_007298.3:c.854_855delAG	NP_009229.2:p.Ser286Ter
	NM_007297.3:c.4022_4023delAG	NP_009228.2:p.Ser1342Ter
Ensemble	ENST00000352993.7:c.737_738delAG	ENST00000352993.7:p.Ser247Ter
	ENST00000357654.9:c.4163_4164delAG	ENST00000357654.9:p.Ser1389Ter
	ENST00000461574.2:c.4163_4164delAG	ENST00000461574.2:p.Ser1389Ter
	ENST00000468300.5:c.854_855delAG	ENST00000468300.5:p.Ser286Ter
	ENST00000470026.6:c.4163_4164delAG	ENST00000470026.6:p.Ser1389Ter
	ENST00000471181.7:c.4163_4164delAG	ENST00000471181.7:p.Ser1389Ter
	ENST00000473961.6:c.4037_4038delAG	ENST00000473961.6:p.Ser1347Ter
	ENST00000476777.6:c.4160_4161delAG	ENST00000476777.6:p.Ser1388Ter
	ENST00000477152.6:c.4085_4086delAG	ENST00000477152.6:p.Ser1363Ter
	ENST00000478531.6:c.851_852delAG	ENST00000478531.6:p.Ser285Ter
	ENST00000484087.6:c.731_732delAG	ENST00000484087.6:p.Ser245Ter
	ENST00000489037.2:c.4085_4086delAG	ENST00000489037.2:p.Ser1363Ter
	ENST00000491747.6:c.854_855delAG	ENST00000491747.6:p.Ser286Ter
	ENST00000493795.5:c.4022_4023delAG	ENST00000493795.5:p.Ser1342Ter
	ENST00000493919.6:c.713_714delAG	ENST00000493919.6:p.Ser239Ter
	ENST00000494123.6:c.4163_4164delAG	ENST00000494123.6:p.Ser1389Ter
	ENST00000497488.2:c.3275_3276delAG	ENST00000497488.2:p.Ser1093Ter
	ENST00000586385.5:c.5-27015_5-27014delAG
	ENST00000591534.5:c.-43-16444_-43-16445delAG
	ENST00000591849.5:c.-99+34306_-99+34305delAG
	ENST00000618469.2:c.4163_4164delAG	ENST00000618469.2:p.Ser1389Ter
	ENST00000634433.2:c.4040_4041delAG	ENST00000634433.2:p.Ser1348Ter
	ENST00000644379.2:c.4163_4164delAG	ENST00000644379.2:p.Ser1389Ter
	ENST00000644555.2:c.713_714delAG	ENST00000644555.2:p.Ser239Ter
	ENST00000700182.1:c.773_774delAG	ENST00000700182.1:p.Ser259Ter
	ENST00000713676.1:c.4163_4164delAG	ENST00000713676.1:p.Ser1389Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Breast-ovarian cancer, familial, susceptibility to, 1	NA	CLINVAR		Detail
0.420	Hereditary Breast and Ovarian Cancer Syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: -
Genome: hg38
Position: chr17:43,090,965-43,090,966
Variant Type: snv
Reference Allele: CT
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 7618
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 94388
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.059456710598805E-5

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