chr17:43047665:C>T Detail (hg38) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,199,682-41,199,682 View the variant detail on this assembly version.
hg38 chr17:43,047,665-43,047,665

HGVS

Type Transcript Protein
RefSeq NM_007294.3:c.5445G>A NP_009225.1:p.Trp1815Ter
NM_007299.3:c.2059G>A NP_009230.2:p.Asp687Asn
NM_007300.3:c.5508G>A NP_009231.2:p.Trp1836Ter
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
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 MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-09-08 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 not applicable germline unknown Detail
Pathogenic 2022-08-26 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-01-25 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
ovarian cancer Olaparib D Predictive Supports Sensitivity/Response Somatic 23415752 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
Annotation

Annotations

DescrptionSourceLinks
In an in vitro study, a SNU-251 cell line expressing BRCA1 W1815X mutation demonstrated increased se... CIViC Evidence Detail
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter) AND Gastric cancer ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA 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
rs397509284 dbSNP
Genome
hg38
Position
chr17:43,047,665-43,047,665
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121396
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.237503706876667E-6
Variant (CIViC) (CIViC Variant)
W1815X
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1555
Genome browser