chr17:43106487:A>G Detail (hg38) (BRCA1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:41,258,504-41,258,504 View the variant detail on this assembly version.
hg38	chr17:43,106,487-43,106,487

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.181T>C	NP_009225.1:p.Cys61Arg
	NM_007299.3:c.181T>C	NP_009230.2:p.Cys61Arg
	NM_007300.3:c.181T>C	NP_009231.2:p.Cys61Arg
	NM_007298.3:c.181T>C	NP_009229.2:p.Cys61Arg
	NM_007297.3:c.40T>C	NP_009228.2:p.Cys14Arg
Ensemble	ENST00000352993.7:c.181T>C	ENST00000352993.7:p.Cys61Arg
	ENST00000357654.9:c.181T>C	ENST00000357654.9:p.Cys61Arg
	ENST00000461574.2:c.181T>C	ENST00000461574.2:p.Cys61Arg
	ENST00000468300.5:c.181T>C	ENST00000468300.5:p.Cys61Arg
	ENST00000470026.6:c.181T>C	ENST00000470026.6:p.Cys61Arg
	ENST00000471181.7:c.181T>C	ENST00000471181.7:p.Cys61Arg
	ENST00000473961.6:c.181T>C	ENST00000473961.6:p.Cys61Arg
	ENST00000476777.6:c.181T>C	ENST00000476777.6:p.Cys61Arg
	ENST00000477152.6:c.135-1531T>C
	ENST00000478531.6:c.181T>C	ENST00000478531.6:p.Cys61Arg
	ENST00000484087.6:c.181T>C	ENST00000484087.6:p.Cys61Arg
	ENST00000489037.2:c.135-1531T>C
	ENST00000491747.6:c.181T>C	ENST00000491747.6:p.Cys61Arg
	ENST00000493795.5:c.40T>C	ENST00000493795.5:p.Cys14Arg
	ENST00000493919.6:c.40T>C	ENST00000493919.6:p.Cys14Arg
	ENST00000494123.6:c.181T>C	ENST00000494123.6:p.Cys61Arg
	ENST00000497488.2:c.-218-11627T>C
	ENST00000586385.5:c.4+18695T>C
	ENST00000591534.5:c.-44+18784T>C
	ENST00000591849.5:c.-99+18784T>C
	ENST00000618469.2:c.181T>C	ENST00000618469.2:p.Cys61Arg
	ENST00000634433.2:c.181T>C	ENST00000634433.2:p.Cys61Arg
	ENST00000644379.2:c.181T>C	ENST00000644379.2:p.Cys61Arg
	ENST00000644555.2:c.40T>C	ENST00000644555.2:p.Cys14Arg
	ENST00000700182.1:c.135-1531T>C
	ENST00000713676.1:c.181T>C	ENST00000713676.1:p.Cys61Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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 Likely pathogenic	2021-06-02	criteria provided, multiple submitters, no conflicts	Breast-ovarian cancer, familial, susceptibility to, 1	unknown not applicable germline	Detail
Likely pathogenic	2018-02-07	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2022-11-23	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	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	NA	CLINVAR		Detail
0.280	Malignant neoplasm of ovary	Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations shou...	BeFree	16261409	Detail
0.082	ovarian carcinoma	Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations shou...	BeFree	16261409	Detail
0.005	Unilateral Breast Carcinoma	Three pathogenic BRCA1 mutations (Cys61Gly, 3814del5, 5382insC) were identified ...	BeFree	11556836	Detail
0.360	Malignant neoplasm of breast	Polish women with breast cancer diagnosed at age of 50 or below should be screen...	BeFree	24528374	Detail
0.280	Malignant neoplasm of ovary	Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian...	UNIPROT	12938098	Detail
0.080	breast carcinoma	The missense BRCA1 mutation C61G was associated with a higher odds ratio for bre...	BeFree	15980987	Detail
0.360	Malignant neoplasm of breast	The missense BRCA1 mutation C61G was associated with a higher odds ratio for bre...	BeFree	15980987	Detail
0.080	breast carcinoma	Polish women with breast cancer diagnosed at age of 50 or below should be screen...	BeFree	24528374	Detail
0.360	Malignant neoplasm of breast	Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian...	UNIPROT	12938098	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations should be extremely effe...	DisGeNET	Detail
Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations should be extremely effe...	DisGeNET	Detail
Three pathogenic BRCA1 mutations (Cys61Gly, 3814del5, 5382insC) were identified in the group of pati...	DisGeNET	Detail
Polish women with breast cancer diagnosed at age of 50 or below should be screened with a panel of s...	DisGeNET	Detail
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in ...	DisGeNET	Detail
The missense BRCA1 mutation C61G was associated with a higher odds ratio for breast cancer (OR=15) t...	DisGeNET	Detail
The missense BRCA1 mutation C61G was associated with a higher odds ratio for breast cancer (OR=15) t...	DisGeNET	Detail
Polish women with breast cancer diagnosed at age of 50 or below should be screened with a panel of s...	DisGeNET	Detail
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in ...	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: rs28897672 dbSNP
Genome: hg38
Position: chr17:43,106,487-43,106,487
Variant Type: snv
Reference Allele: A
Alternative Allele: G

Genome browser