chr17:41234451:G>A Detail (hg19) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,234,451-41,234,451
hg38 chr17:43,082,434-43,082,434 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007300.3:c.4327C>T NP_009231.2:p.Arg1443Ter
NM_007297.3:c.4186C>T NP_009228.2:p.Arg1396Ter
NM_007298.3:c.1018C>T NP_009229.2:p.Arg340Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 COSM4870621 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic breast-ovarian cancer, familial, susceptibility to germline MGS000069
(TMGS000141) 		Kenjiro Kosaki
 Keio University
Okayama University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-04-22 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 unknown germline Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline unknown Detail
Pathogenic 2023-05-09 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2017-02-23 criteria provided, single submitter Familial cancer of breast germline Detail
Pathogenic 2023-11-03 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2019-02-21 criteria provided, multiple submitters, no conflicts not specified germline Detail
Pathogenic 2023-06-23 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Pathogenic 2021-10-19 criteria provided, single submitter Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast unknown Detail
Pathogenic 2021-10-19 criteria provided, single submitter Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast unknown Detail
Pathogenic 2021-10-19 criteria provided, single submitter Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast unknown Detail
Pathogenic 2021-10-19 criteria provided, single submitter Pancreatic cancer, susceptibility to, 4,Breast-ovarian cancer, familial, susceptibility to, 1,Fanconi anemia, complementation group S,Familial cancer of breast unknown Detail
Pathogenic no assertion criteria provided unknown 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
0.082 ovarian carcinoma Molecular and genealogical characterization of the R1443X BRCA1 mutation in high... BeFree 15883839 Detail
0.280 Malignant neoplasm of ovary Molecular and genealogical characterization of the R1443X BRCA1 mutation in high... BeFree 15883839 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.4327C>T (p.Arg1443Ter) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) AND Familial cancer of breast ClinVar Detail
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) AND not specified ClinVar Detail
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) AND Breast and/or ovarian cancer ClinVar Detail
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) AND Malignant tumor of breast ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadia... DisGeNET Detail
Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadia... 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
rs41293455 dbSNP
Genome
hg19
Position
chr17:41,234,451-41,234,451
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
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)
121390
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)
1.6475821731608865E-5
Variant (CIViC) (CIViC Variant)
R1443*
Transcript 1 (CIViC Variant)
ENST00000471181.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1245
Genome browser