chr17:43045725:C>T 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	chr17:41,197,742-41,197,742 View the variant detail on this assembly version.
hg38	chr17:43,045,725-43,045,725

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.5545G>A	NP_009225.1:p.Glu1849Lys
	NM_007299.3:c.*59G>A
	NM_007300.3:c.5608G>A	NP_009231.2:p.Glu1870Lys
	NM_007298.3:c.2233G>A	NP_009229.2:p.Glu745Lys
	NM_007297.3:c.5404G>A	NP_009228.2:p.Glu1802Lys
Ensemble	ENST00000352993.7:c.2119G>A	ENST00000352993.7:p.Glu707Lys
	ENST00000357654.9:c.5545G>A	ENST00000357654.9:p.Glu1849Lys
	ENST00000461574.2:c.5542G>A	ENST00000461574.2:p.Glu1848Lys
	ENST00000468300.5:c.*59G>A
	ENST00000470026.6:c.5545G>A	ENST00000470026.6:p.Glu1849Lys
	ENST00000471181.7:c.5608G>A	ENST00000471181.7:p.Glu1870Lys
	ENST00000473961.6:c.5419G>A	ENST00000473961.6:p.Glu1807Lys
	ENST00000476777.6:c.5539G>A	ENST00000476777.6:p.Glu1847Lys
	ENST00000477152.6:c.5467G>A	ENST00000477152.6:p.Glu1823Lys
	ENST00000478531.6:c.2233G>A	ENST00000478531.6:p.Glu745Lys
	ENST00000484087.6:c.2107G>A	ENST00000484087.6:p.Glu703Lys
	ENST00000489037.2:c.5467G>A	ENST00000489037.2:p.Glu1823Lys
	ENST00000491747.6:c.2233G>A	ENST00000491747.6:p.Glu745Lys
	ENST00000493795.5:c.5404G>A	ENST00000493795.5:p.Glu1802Lys
	ENST00000493919.6:c.2095G>A	ENST00000493919.6:p.Glu699Lys
	ENST00000494123.6:c.5545G>A	ENST00000494123.6:p.Glu1849Lys
	ENST00000497488.2:c.4657G>A	ENST00000497488.2:p.Glu1553Lys
	ENST00000586385.5:c.475G>A	ENST00000586385.5:p.Glu159Lys
	ENST00000591534.5:c.1018G>A	ENST00000591534.5:p.Glu340Lys
	ENST00000591849.5:c.244G>A	ENST00000591849.5:p.Glu82Lys
	ENST00000618469.2:c.5545G>A	ENST00000618469.2:p.Glu1849Lys
	ENST00000634433.2:c.5422G>A	ENST00000634433.2:p.Glu1808Lys
	ENST00000644379.2:c.5611G>A	ENST00000644379.2:p.Glu1871Lys
	ENST00000644555.2:c.2095G>A	ENST00000644555.2:p.Glu699Lys
	ENST00000713676.1:c.5545G>A	ENST00000713676.1:p.Glu1849Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:<0.001
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:[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	tgv136732811	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	Breast-ovarian cancer, familial, susceptibility to, 1	not applicable	Detail
Likely benign	2022-01-19	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.5545G>A (p.Glu1849Lys) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.5545G>A (p.Glu1849Lys) 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: rs2050864747 dbSNP
Genome: hg38
Position: chr17:43,045,725-43,045,725
Variant Type: snv
Reference Allele: C
Alternative Allele: T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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