chr17:43106478:A>C Detail (hg38) (BRCA1)

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

Information

Genome

Assembly	Position
hg19	chr17:41,258,495-41,258,495 View the variant detail on this assembly version.
hg38	chr17:43,106,478-43,106,478

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.190T>G	NP_009225.1:p.Cys64Gly
	NM_007299.3:c.190T>G	NP_009230.2:p.Cys64Gly
	NM_007300.3:c.190T>G	NP_009231.2:p.Cys64Gly
	NM_007298.3:c.190T>G	NP_009229.2:p.Cys64Gly
	NM_007297.3:c.49T>G	NP_009228.2:p.Cys17Gly
Ensemble	ENST00000352993.7:c.190T>G	ENST00000352993.7:p.Cys64Gly
	ENST00000357654.9:c.190T>G	ENST00000357654.9:p.Cys64Gly
	ENST00000461574.2:c.190T>G	ENST00000461574.2:p.Cys64Gly
	ENST00000468300.5:c.190T>G	ENST00000468300.5:p.Cys64Gly
	ENST00000470026.6:c.190T>G	ENST00000470026.6:p.Cys64Gly
	ENST00000471181.7:c.190T>G	ENST00000471181.7:p.Cys64Gly
	ENST00000473961.6:c.190T>G	ENST00000473961.6:p.Cys64Gly
	ENST00000476777.6:c.190T>G	ENST00000476777.6:p.Cys64Gly
	ENST00000477152.6:c.135-1522T>G
	ENST00000478531.6:c.190T>G	ENST00000478531.6:p.Cys64Gly
	ENST00000484087.6:c.190T>G	ENST00000484087.6:p.Cys64Gly
	ENST00000489037.2:c.135-1522T>G
	ENST00000491747.6:c.190T>G	ENST00000491747.6:p.Cys64Gly
	ENST00000493795.5:c.49T>G	ENST00000493795.5:p.Cys17Gly
	ENST00000493919.6:c.49T>G	ENST00000493919.6:p.Cys17Gly
	ENST00000494123.6:c.190T>G	ENST00000494123.6:p.Cys64Gly
	ENST00000497488.2:c.-218-11618T>G
	ENST00000586385.5:c.4+18704T>G
	ENST00000591534.5:c.-44+18793T>G
	ENST00000591849.5:c.-99+18793T>G
	ENST00000618469.2:c.190T>G	ENST00000618469.2:p.Cys64Gly
	ENST00000634433.2:c.190T>G	ENST00000634433.2:p.Cys64Gly
	ENST00000644379.2:c.190T>G	ENST00000644379.2:p.Cys64Gly
	ENST00000644555.2:c.49T>G	ENST00000644555.2:p.Cys17Gly
	ENST00000700182.1:c.135-1522T>G
	ENST00000713676.1:c.190T>G	ENST00000713676.1:p.Cys64Gly

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	2023-06-08	criteria provided, multiple submitters, no conflicts	Breast-ovarian cancer, familial, susceptibility to, 1	unknown not applicable germline	Detail
Pathogenic	2023-12-07	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2023-03-30	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-01-19	criteria provided, multiple submitters, no conflicts	not provided	unknown germline	Detail
Uncertain significance	2014-01-31	no assertion criteria provided	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Breast-ovarian cancer, familial, susceptibility to, 1	NA	CLINVAR		Detail
0.196	Breast Cancer, Familial	NA	CLINVAR		Detail
0.126	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.420	Hereditary Breast and Ovarian Cancer Syndrome	Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutat...	BeFree	24516540	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) AND not specified	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutation, mapped to the R...	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: rs80357064 dbSNP
Genome: hg38
Position: chr17:43,106,478-43,106,478
Variant Type: snv
Reference Allele: A
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8602
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): 118822
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.683189981653229E-5

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