chr17:41244712:TA> Detail (hg19) (BRCA1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:41,244,712-41,244,713
hg38	chr17:43,092,695-43,092,696

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007298.3:c.788-1664_788-1663delTA
	NM_007299.3:c.788-1664_788-1663delTA
	NM_007297.3:c.2694_2695delTA	NP_009228.2:p.Ile899GlnfsTer5
	NM_007300.3:c.2835_2836delTA	NP_009231.2:p.Ile946GlnfsTer5
	NM_007294.3:c.2835_2836delTA	NP_009225.1:p.Ile946GlnfsTer5
Ensemble	ENST00000634433.2:c.2712_2713delTA	ENST00000634433.2:p.Ile905GlnfsTer5
	ENST00000591849.5:c.-99+32576_-99+32575delTA
	ENST00000713676.1:c.2835_2836delTA	ENST00000713676.1:p.Ile946GlnfsTer5
	ENST00000644379.2:c.2835_2836delTA	ENST00000644379.2:p.Ile946GlnfsTer5
	ENST00000470026.6:c.2835_2836delTA	ENST00000470026.6:p.Ile946GlnfsTer5
	ENST00000491747.6:c.788-1664_788-1663delTA
	ENST00000586385.5:c.5-28745_5-28744delTA
	ENST00000618469.2:c.2835_2836delTA	ENST00000618469.2:p.Ile946GlnfsTer5
	ENST00000476777.6:c.2832_2833delTA	ENST00000476777.6:p.Ile945GlnfsTer5
	ENST00000700182.1:c.707-1664_707-1663delTA
	ENST00000489037.2:c.2757_2758delTA	ENST00000489037.2:p.Ile920GlnfsTer5
	ENST00000473961.6:c.2709_2710delTA	ENST00000473961.6:p.Ile904GlnfsTer5
	ENST00000468300.5:c.788-1664_788-1663delTA
	ENST00000644555.2:c.647-1664_647-1663delTA
	ENST00000477152.6:c.2757_2758delTA	ENST00000477152.6:p.Ile920GlnfsTer5
	ENST00000484087.6:c.665-1664_665-1663delTA
	ENST00000494123.6:c.2835_2836delTA	ENST00000494123.6:p.Ile946GlnfsTer5
	ENST00000478531.6:c.785-1664_785-1663delTA
	ENST00000493795.5:c.2694_2695delTA	ENST00000493795.5:p.Ile899GlnfsTer5
	ENST00000471181.7:c.2835_2836delTA	ENST00000471181.7:p.Ile946GlnfsTer5
	ENST00000497488.2:c.1947_1948delTA	ENST00000497488.2:p.Ile650GlnfsTer5
	ENST00000591534.5:c.-43-18174_-43-18175delTA
	ENST00000357654.9:c.2835_2836delTA	ENST00000357654.9:p.Ile946GlnfsTer5
	ENST00000461574.2:c.2835_2836delTA	ENST00000461574.2:p.Ile946GlnfsTer5
	ENST00000352993.7:c.671-1664_671-1663delTA
	ENST00000493919.6:c.647-1664_647-1663delTA

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	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

[No Data.]

MGeND

[No Data.]

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	Detail
Uncertain significance		no assertion criteria provided	not provided	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.420	Hereditary Breast and Ovarian Cancer Syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.2836_2837del (p.Ile946fs) AND Breast-ovarian cancer, familial, susceptibility t...	ClinVar	Detail
NM_007294.4(BRCA1):c.2836_2837del (p.Ile946fs) AND not provided	ClinVar	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: rs397509016 dbSNP
Genome: hg19
Position: chr17:41,244,712-41,244,713
Variant Type: snv
Reference Allele: TA
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8654
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): 121378
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): 8.2387253044209E-6

Genome browser