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

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

Type Transcript Protein
RefSeq NM_007294.3:c.181T>G NP_009225.1:p.Cys61Gly
NM_007299.3:c.181T>G NP_009230.2:p.Cys61Gly
NM_007300.3:c.181T>G NP_009231.2:p.Cys61Gly
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
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 2015-08-10 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 unknown not provided not applicable germline somatic Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline unknown Detail
Pathogenic 2023-09-05 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts not provided unknown germline Detail
Pathogenic 2022-11-29 criteria provided, multiple submitters, no conflicts Familial cancer of breast unknown germline Detail
Pathogenic criteria provided, single submitter Breast neoplasm germline Detail
Pathogenic 2022-10-24 criteria provided, single submitter breast carcinoma unknown Detail
Pathogenic 2022-05-03 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4 unknown Detail
Pathogenic 2022-05-03 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4 unknown Detail
Pathogenic 2022-05-03 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4 unknown Detail
Pathogenic 2022-05-03 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast,Pancreatic cancer, susceptibility to, 4 unknown Detail
Pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary germline Detail
Pathogenic 2019-06-11 no assertion criteria provided Breast and/or ovarian cancer germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
ovarian cancer Rucaparib C Predictive Supports Sensitivity/Response Somatic 27908594 Detail
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

DescrptionSourceLinks
In a phase 2 study of 206 recurrent, platinum-sensitive, high-grade ovarian cancer patients, patient... CIViC Evidence Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Familial cancer of breast ClinVar Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Breast neoplasm ClinVar Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Breast carcinoma ClinVar Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Neoplasm of ovary ClinVar Detail
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) AND Breast and/or ovarian cancer 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
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)
119006
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
8
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.722350133606709E-5
Variant (CIViC) (CIViC Variant)
C61G
Transcript 1 (CIViC Variant)
ENST00000471181.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1238
Genome browser