chr17:43092919:G>C Detail (hg38) (BRCA1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:41,244,936-41,244,936 View the variant detail on this assembly version.
hg38	chr17:43,092,919-43,092,919

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.2612C>G	NP_009225.1:p.Pro871Arg
	NM_007299.3:c.787+1825C>G
	NM_007300.3:c.2612C>G	NP_009231.2:p.Pro871Arg
	NM_007298.3:c.787+1825C>G
	NM_007297.3:c.2471C>G	NP_009228.2:p.Pro824Arg
Ensemble	ENST00000352993.7:c.671-1887C>G
	ENST00000357654.9:c.2612C>G	ENST00000357654.9:p.Pro871Arg
	ENST00000461574.2:c.2612C>G	ENST00000461574.2:p.Pro871Arg
	ENST00000468300.5:c.787+1825C>G
	ENST00000470026.6:c.2612C>G	ENST00000470026.6:p.Pro871Arg
	ENST00000471181.7:c.2612C>G	ENST00000471181.7:p.Pro871Arg
	ENST00000473961.6:c.2486C>G	ENST00000473961.6:p.Pro829Arg
	ENST00000476777.6:c.2609C>G	ENST00000476777.6:p.Pro870Arg
	ENST00000477152.6:c.2534C>G	ENST00000477152.6:p.Pro845Arg
	ENST00000478531.6:c.784+1825C>G
	ENST00000484087.6:c.664+1825C>G
	ENST00000489037.2:c.2534C>G	ENST00000489037.2:p.Pro845Arg
	ENST00000491747.6:c.787+1825C>G
	ENST00000493795.5:c.2471C>G	ENST00000493795.5:p.Pro824Arg
	ENST00000493919.6:c.646+1825C>G
	ENST00000494123.6:c.2612C>G	ENST00000494123.6:p.Pro871Arg
	ENST00000497488.2:c.1724C>G	ENST00000497488.2:p.Pro575Arg
	ENST00000586385.5:c.5-28968C>G
	ENST00000591534.5:c.-43-18398C>G
	ENST00000591849.5:c.-99+32352C>G
	ENST00000618469.2:c.2612C>G	ENST00000618469.2:p.Pro871Arg
	ENST00000634433.2:c.2489C>G	ENST00000634433.2:p.Pro830Arg
	ENST00000644379.2:c.2612C>G	ENST00000644379.2:p.Pro871Arg
	ENST00000644555.2:c.646+1825C>G
	ENST00000700182.1:c.706+1825C>G
	ENST00000713676.1:c.2612C>G	ENST00000713676.1:p.Pro871Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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
Uncertain significance	2023-12-01	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1	germline	Detail
Conflicting interpretations of pathogenicity	2023-03-23	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2021-06-10	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2024-01-24	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2023-08-18	criteria provided, conflicting interpretations	not provided	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Malignant tumor of cervix	We genotyped 4 single nucleotide polymorphisms (SNPs) with amino acid changes, T...	BeFree	19482343	Detail
0.003	cervix carcinoma	We genotyped 4 single nucleotide polymorphisms (SNPs) with amino acid changes, T...	BeFree	19482343	Detail
<0.001	Lymphoma, Large-Cell, Follicular	Compared to those with BMI <25, women with BMI ≥25 had significantly increase...	BeFree	23619945	Detail
0.005	Lymphoma, Non-Hodgkin	Compared to those with BMI <25, women with BMI ≥25 had significantly increase...	BeFree	23619945	Detail
0.008	Lymphoma, Non-Hodgkin	Compared to those with BMI <25, women with BMI ≥25 had significantly increase...	BeFree	23619945	Detail
<0.001	Lymphoma, Large-Cell, Follicular	Compared to those with BMI <25, women with BMI ≥25 had significantly increase...	BeFree	23619945	Detail
<0.001	Lymphoma, Large-Cell, Follicular	Compared to those with BMI <25, women with BMI ≥25 had significantly increase...	BeFree	23619945	Detail
0.013	Lymphoma, Non-Hodgkin	Compared to those with BMI <25, women with BMI ≥25 had significantly increase...	BeFree	23619945	Detail
0.006	Lymphoma, Non-Hodgkin	Compared to those with BMI <25, women with BMI ≥25 had significantly increase...	BeFree	23619945	Detail
<0.001	Lymphoma, Large-Cell, Follicular	Compared to those with BMI <25, women with BMI ≥25 had significantly increase...	BeFree	23619945	Detail
0.032	Epithelial ovarian cancer	No association was detected between EOC risk and BRCA1 Q356R, BRCA1 P871L, RAD51...	BeFree	15924337	Detail
0.080	breast carcinoma	In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t...	BeFree	19205873	Detail
0.360	Malignant neoplasm of breast	In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t...	BeFree	19205873	Detail
0.010	Malignant neoplasm of breast	In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t...	BeFree	19205873	Detail
0.003	breast carcinoma	In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t...	BeFree	19205873	Detail
0.360	Malignant neoplasm of breast	To assess whether target SNPs are implicated in BC susceptibility, we conducted ...	BeFree	20332227	Detail
0.080	breast carcinoma	To assess whether target SNPs are implicated in BC susceptibility, we conducted ...	BeFree	20332227	Detail
0.004	Malignant neoplasm of stomach	The functional BRCA1 rs799917 genetic polymorphism is associated with gastric ca...	BeFree	25266802	Detail
0.004	stomach carcinoma	The functional BRCA1 rs799917 genetic polymorphism is associated with gastric ca...	BeFree	25266802	Detail
0.080	breast carcinoma	Association between BRCA1 rs799917 polymorphism and breast cancer risk: A meta-a...	BeFree	25194442	Detail
0.360	Malignant neoplasm of breast	Association between BRCA1 rs799917 polymorphism and breast cancer risk: A meta-a...	BeFree	25194442	Detail
0.003	cervix carcinoma	These findings indicate that BRCA1 rs799917 polymorphism may contribute to the r...	BeFree	19482343	Detail
<0.001	Malignant tumor of cervix	These findings indicate that BRCA1 rs799917 polymorphism may contribute to the r...	BeFree	19482343	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg) AND not specified	ClinVar	Detail
NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg) AND not provided	ClinVar	Detail
We genotyped 4 single nucleotide polymorphisms (SNPs) with amino acid changes, TP53 Pro72Arg (rs1042...	DisGeNET	Detail
We genotyped 4 single nucleotide polymorphisms (SNPs) with amino acid changes, TP53 Pro72Arg (rs1042...	DisGeNET	Detail
Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ...	DisGeNET	Detail
Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ...	DisGeNET	Detail
Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ...	DisGeNET	Detail
Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ...	DisGeNET	Detail
Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ...	DisGeNET	Detail
Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ...	DisGeNET	Detail
Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ...	DisGeNET	Detail
Compared to those with BMI <25, women with BMI ≥25 had significantly increased risk of NHL among ...	DisGeNET	Detail
No association was detected between EOC risk and BRCA1 Q356R, BRCA1 P871L, RAD51 g135c, RAD51 g172t,...	DisGeNET	Detail
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis...	DisGeNET	Detail
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis...	DisGeNET	Detail
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis...	DisGeNET	Detail
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis...	DisGeNET	Detail
To assess whether target SNPs are implicated in BC susceptibility, we conducted a case-control popul...	DisGeNET	Detail
To assess whether target SNPs are implicated in BC susceptibility, we conducted a case-control popul...	DisGeNET	Detail
The functional BRCA1 rs799917 genetic polymorphism is associated with gastric cancer risk in a Chine...	DisGeNET	Detail
The functional BRCA1 rs799917 genetic polymorphism is associated with gastric cancer risk in a Chine...	DisGeNET	Detail
Association between BRCA1 rs799917 polymorphism and breast cancer risk: A meta-analysis of 19,878 su...	DisGeNET	Detail
Association between BRCA1 rs799917 polymorphism and breast cancer risk: A meta-analysis of 19,878 su...	DisGeNET	Detail
These findings indicate that BRCA1 rs799917 polymorphism may contribute to the risk of cervical canc...	DisGeNET	Detail
These findings indicate that BRCA1 rs799917 polymorphism may contribute to the risk of cervical canc...	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: rs799917 dbSNP
Genome: hg38
Position: chr17:43,092,919-43,092,919
Variant Type: snv
Reference Allele: G
Alternative Allele: C

Genome browser